test/P06280.xml

<?xml version="1.0" encoding="UTF-8"  standalone="no" ?>
<uniprot xmlns="http://uniprot.org/uniprot" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:schemaLocation="http://uniprot.org/uniprot http://www.uniprot.org/docs/uniprot.xsd">
<entry dataset="Swiss-Prot" created="1988-01-01" modified="2025-02-05" version="248" xmlns="http://uniprot.org/uniprot">
  <accession>P06280</accession>
  <accession>Q6LER7</accession>
  <name>AGAL_HUMAN</name>
  <protein>
    <recommendedName>
      <fullName evidence="49">Alpha-galactosidase A</fullName>
      <ecNumber evidence="24 26">3.2.1.22</ecNumber>
    </recommendedName>
    <alternativeName>
      <fullName>Alpha-D-galactosidase A</fullName>
    </alternativeName>
    <alternativeName>
      <fullName>Alpha-D-galactoside galactohydrolase</fullName>
    </alternativeName>
    <alternativeName>
      <fullName evidence="49">Galactosylgalactosylglucosylceramidase GLA</fullName>
    </alternativeName>
    <alternativeName>
      <fullName>Melibiase</fullName>
    </alternativeName>
    <innName>Agalsidase</innName>
  </protein>
  <gene>
    <name evidence="52" type="primary">GLA</name>
  </gene>
  <organism>
    <name type="scientific">Homo sapiens</name>
    <name type="common">Human</name>
    <dbReference type="NCBI Taxonomy" id="9606"/>
    <lineage>
      <taxon>Eukaryota</taxon>
      <taxon>Metazoa</taxon>
      <taxon>Chordata</taxon>
      <taxon>Craniata</taxon>
      <taxon>Vertebrata</taxon>
      <taxon>Euteleostomi</taxon>
      <taxon>Mammalia</taxon>
      <taxon>Eutheria</taxon>
      <taxon>Euarchontoglires</taxon>
      <taxon>Primates</taxon>
      <taxon>Haplorrhini</taxon>
      <taxon>Catarrhini</taxon>
      <taxon>Hominidae</taxon>
      <taxon>Homo</taxon>
    </lineage>
  </organism>
  <reference key="1">
    <citation type="journal article" date="1987" name="Eur. J. Biochem." volume="165" first="275" last="280">
      <title>Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A.</title>
      <authorList>
        <person name="Tsuji S."/>
        <person name="Martin B.M."/>
        <person name="Kaslow D.C."/>
        <person name="Migeon B.R."/>
        <person name="Choudary P.V."/>
        <person name="Stubblefield B.K."/>
        <person name="Mayor J.A."/>
        <person name="Murray G.J."/>
        <person name="Barranger J.A."/>
        <person name="Ginns E.I."/>
      </authorList>
      <dbReference type="PubMed" id="3036505"/>
      <dbReference type="DOI" id="10.1111/j.1432-1033.1987.tb11438.x"/>
    </citation>
    <scope>NUCLEOTIDE SEQUENCE [MRNA]</scope>
    <source>
      <tissue>Fibroblast</tissue>
    </source>
  </reference>
  <reference key="2">
    <citation type="journal article" date="1989" name="Nucleic Acids Res." volume="17" first="3301" last="3302">
      <title>Nucleotide sequence of the human alpha-galactosidase A gene.</title>
      <authorList>
        <person name="Kornreich R."/>
        <person name="Desnick R.J."/>
        <person name="Bishop D.F."/>
      </authorList>
      <dbReference type="PubMed" id="2542896"/>
      <dbReference type="DOI" id="10.1093/nar/17.8.3301"/>
    </citation>
    <scope>NUCLEOTIDE SEQUENCE [GENOMIC DNA]</scope>
    <source>
      <tissue>Lymphoblast</tissue>
    </source>
  </reference>
  <reference key="3">
    <citation type="journal article" date="1995" name="Mamm. Genome" volume="6" first="334" last="338">
      <title>Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.</title>
      <authorList>
        <person name="Oeltjen J.C."/>
        <person name="Liu X."/>
        <person name="Lu J."/>
        <person name="Allen R.C."/>
        <person name="Muzny D.M."/>
        <person name="Belmont J.W."/>
        <person name="Gibbs R.A."/>
      </authorList>
      <dbReference type="PubMed" id="7626884"/>
      <dbReference type="DOI" id="10.1007/bf00364796"/>
    </citation>
    <scope>NUCLEOTIDE SEQUENCE [GENOMIC DNA]</scope>
  </reference>
  <reference key="4">
    <citation type="journal article" date="2005" name="Nature" volume="434" first="325" last="337">
      <title>The DNA sequence of the human X chromosome.</title>
      <authorList>
        <person name="Ross M.T."/>
        <person name="Grafham D.V."/>
        <person name="Coffey A.J."/>
        <person name="Scherer S."/>
        <person name="McLay K."/>
        <person name="Muzny D."/>
        <person name="Platzer M."/>
        <person name="Howell G.R."/>
        <person name="Burrows C."/>
        <person name="Bird C.P."/>
        <person name="Frankish A."/>
        <person name="Lovell F.L."/>
        <person name="Howe K.L."/>
        <person name="Ashurst J.L."/>
        <person name="Fulton R.S."/>
        <person name="Sudbrak R."/>
        <person name="Wen G."/>
        <person name="Jones M.C."/>
        <person name="Hurles M.E."/>
        <person name="Andrews T.D."/>
        <person name="Scott C.E."/>
        <person name="Searle S."/>
        <person name="Ramser J."/>
        <person name="Whittaker A."/>
        <person name="Deadman R."/>
        <person name="Carter N.P."/>
        <person name="Hunt S.E."/>
        <person name="Chen R."/>
        <person name="Cree A."/>
        <person name="Gunaratne P."/>
        <person name="Havlak P."/>
        <person name="Hodgson A."/>
        <person name="Metzker M.L."/>
        <person name="Richards S."/>
        <person name="Scott G."/>
        <person name="Steffen D."/>
        <person name="Sodergren E."/>
        <person name="Wheeler D.A."/>
        <person name="Worley K.C."/>
        <person name="Ainscough R."/>
        <person name="Ambrose K.D."/>
        <person name="Ansari-Lari M.A."/>
        <person name="Aradhya S."/>
        <person name="Ashwell R.I."/>
        <person name="Babbage A.K."/>
        <person name="Bagguley C.L."/>
        <person name="Ballabio A."/>
        <person name="Banerjee R."/>
        <person name="Barker G.E."/>
        <person name="Barlow K.F."/>
        <person name="Barrett I.P."/>
        <person name="Bates K.N."/>
        <person name="Beare D.M."/>
        <person name="Beasley H."/>
        <person name="Beasley O."/>
        <person name="Beck A."/>
        <person name="Bethel G."/>
        <person name="Blechschmidt K."/>
        <person name="Brady N."/>
        <person name="Bray-Allen S."/>
        <person name="Bridgeman A.M."/>
        <person name="Brown A.J."/>
        <person name="Brown M.J."/>
        <person name="Bonnin D."/>
        <person name="Bruford E.A."/>
        <person name="Buhay C."/>
        <person name="Burch P."/>
        <person name="Burford D."/>
        <person name="Burgess J."/>
        <person name="Burrill W."/>
        <person name="Burton J."/>
        <person name="Bye J.M."/>
        <person name="Carder C."/>
        <person name="Carrel L."/>
        <person name="Chako J."/>
        <person name="Chapman J.C."/>
        <person name="Chavez D."/>
        <person name="Chen E."/>
        <person name="Chen G."/>
        <person name="Chen Y."/>
        <person name="Chen Z."/>
        <person name="Chinault C."/>
        <person name="Ciccodicola A."/>
        <person name="Clark S.Y."/>
        <person name="Clarke G."/>
        <person name="Clee C.M."/>
        <person name="Clegg S."/>
        <person name="Clerc-Blankenburg K."/>
        <person name="Clifford K."/>
        <person name="Cobley V."/>
        <person name="Cole C.G."/>
        <person name="Conquer J.S."/>
        <person name="Corby N."/>
        <person name="Connor R.E."/>
        <person name="David R."/>
        <person name="Davies J."/>
        <person name="Davis C."/>
        <person name="Davis J."/>
        <person name="Delgado O."/>
        <person name="Deshazo D."/>
        <person name="Dhami P."/>
        <person name="Ding Y."/>
        <person name="Dinh H."/>
        <person name="Dodsworth S."/>
        <person name="Draper H."/>
        <person name="Dugan-Rocha S."/>
        <person name="Dunham A."/>
        <person name="Dunn M."/>
        <person name="Durbin K.J."/>
        <person name="Dutta I."/>
        <person name="Eades T."/>
        <person name="Ellwood M."/>
        <person name="Emery-Cohen A."/>
        <person name="Errington H."/>
        <person name="Evans K.L."/>
        <person name="Faulkner L."/>
        <person name="Francis F."/>
        <person name="Frankland J."/>
        <person name="Fraser A.E."/>
        <person name="Galgoczy P."/>
        <person name="Gilbert J."/>
        <person name="Gill R."/>
        <person name="Gloeckner G."/>
        <person name="Gregory S.G."/>
        <person name="Gribble S."/>
        <person name="Griffiths C."/>
        <person name="Grocock R."/>
        <person name="Gu Y."/>
        <person name="Gwilliam R."/>
        <person name="Hamilton C."/>
        <person name="Hart E.A."/>
        <person name="Hawes A."/>
        <person name="Heath P.D."/>
        <person name="Heitmann K."/>
        <person name="Hennig S."/>
        <person name="Hernandez J."/>
        <person name="Hinzmann B."/>
        <person name="Ho S."/>
        <person name="Hoffs M."/>
        <person name="Howden P.J."/>
        <person name="Huckle E.J."/>
        <person name="Hume J."/>
        <person name="Hunt P.J."/>
        <person name="Hunt A.R."/>
        <person name="Isherwood J."/>
        <person name="Jacob L."/>
        <person name="Johnson D."/>
        <person name="Jones S."/>
        <person name="de Jong P.J."/>
        <person name="Joseph S.S."/>
        <person name="Keenan S."/>
        <person name="Kelly S."/>
        <person name="Kershaw J.K."/>
        <person name="Khan Z."/>
        <person name="Kioschis P."/>
        <person name="Klages S."/>
        <person name="Knights A.J."/>
        <person name="Kosiura A."/>
        <person name="Kovar-Smith C."/>
        <person name="Laird G.K."/>
        <person name="Langford C."/>
        <person name="Lawlor S."/>
        <person name="Leversha M."/>
        <person name="Lewis L."/>
        <person name="Liu W."/>
        <person name="Lloyd C."/>
        <person name="Lloyd D.M."/>
        <person name="Loulseged H."/>
        <person name="Loveland J.E."/>
        <person name="Lovell J.D."/>
        <person name="Lozado R."/>
        <person name="Lu J."/>
        <person name="Lyne R."/>
        <person name="Ma J."/>
        <person name="Maheshwari M."/>
        <person name="Matthews L.H."/>
        <person name="McDowall J."/>
        <person name="McLaren S."/>
        <person name="McMurray A."/>
        <person name="Meidl P."/>
        <person name="Meitinger T."/>
        <person name="Milne S."/>
        <person name="Miner G."/>
        <person name="Mistry S.L."/>
        <person name="Morgan M."/>
        <person name="Morris S."/>
        <person name="Mueller I."/>
        <person name="Mullikin J.C."/>
        <person name="Nguyen N."/>
        <person name="Nordsiek G."/>
        <person name="Nyakatura G."/>
        <person name="O'dell C.N."/>
        <person name="Okwuonu G."/>
        <person name="Palmer S."/>
        <person name="Pandian R."/>
        <person name="Parker D."/>
        <person name="Parrish J."/>
        <person name="Pasternak S."/>
        <person name="Patel D."/>
        <person name="Pearce A.V."/>
        <person name="Pearson D.M."/>
        <person name="Pelan S.E."/>
        <person name="Perez L."/>
        <person name="Porter K.M."/>
        <person name="Ramsey Y."/>
        <person name="Reichwald K."/>
        <person name="Rhodes S."/>
        <person name="Ridler K.A."/>
        <person name="Schlessinger D."/>
        <person name="Schueler M.G."/>
        <person name="Sehra H.K."/>
        <person name="Shaw-Smith C."/>
        <person name="Shen H."/>
        <person name="Sheridan E.M."/>
        <person name="Shownkeen R."/>
        <person name="Skuce C.D."/>
        <person name="Smith M.L."/>
        <person name="Sotheran E.C."/>
        <person name="Steingruber H.E."/>
        <person name="Steward C.A."/>
        <person name="Storey R."/>
        <person name="Swann R.M."/>
        <person name="Swarbreck D."/>
        <person name="Tabor P.E."/>
        <person name="Taudien S."/>
        <person name="Taylor T."/>
        <person name="Teague B."/>
        <person name="Thomas K."/>
        <person name="Thorpe A."/>
        <person name="Timms K."/>
        <person name="Tracey A."/>
        <person name="Trevanion S."/>
        <person name="Tromans A.C."/>
        <person name="d'Urso M."/>
        <person name="Verduzco D."/>
        <person name="Villasana D."/>
        <person name="Waldron L."/>
        <person name="Wall M."/>
        <person name="Wang Q."/>
        <person name="Warren J."/>
        <person name="Warry G.L."/>
        <person name="Wei X."/>
        <person name="West A."/>
        <person name="Whitehead S.L."/>
        <person name="Whiteley M.N."/>
        <person name="Wilkinson J.E."/>
        <person name="Willey D.L."/>
        <person name="Williams G."/>
        <person name="Williams L."/>
        <person name="Williamson A."/>
        <person name="Williamson H."/>
        <person name="Wilming L."/>
        <person name="Woodmansey R.L."/>
        <person name="Wray P.W."/>
        <person name="Yen J."/>
        <person name="Zhang J."/>
        <person name="Zhou J."/>
        <person name="Zoghbi H."/>
        <person name="Zorilla S."/>
        <person name="Buck D."/>
        <person name="Reinhardt R."/>
        <person name="Poustka A."/>
        <person name="Rosenthal A."/>
        <person name="Lehrach H."/>
        <person name="Meindl A."/>
        <person name="Minx P.J."/>
        <person name="Hillier L.W."/>
        <person name="Willard H.F."/>
        <person name="Wilson R.K."/>
        <person name="Waterston R.H."/>
        <person name="Rice C.M."/>
        <person name="Vaudin M."/>
        <person name="Coulson A."/>
        <person name="Nelson D.L."/>
        <person name="Weinstock G."/>
        <person name="Sulston J.E."/>
        <person name="Durbin R.M."/>
        <person name="Hubbard T."/>
        <person name="Gibbs R.A."/>
        <person name="Beck S."/>
        <person name="Rogers J."/>
        <person name="Bentley D.R."/>
      </authorList>
      <dbReference type="PubMed" id="15772651"/>
      <dbReference type="DOI" id="10.1038/nature03440"/>
    </citation>
    <scope>NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]</scope>
  </reference>
  <reference key="5">
    <citation type="journal article" date="2004" name="Genome Res." volume="14" first="2121" last="2127">
      <title>The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).</title>
      <authorList>
        <consortium name="The MGC Project Team"/>
      </authorList>
      <dbReference type="PubMed" id="15489334"/>
      <dbReference type="DOI" id="10.1101/gr.2596504"/>
    </citation>
    <scope>NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]</scope>
    <source>
      <tissue>Uterus</tissue>
    </source>
  </reference>
  <reference key="6">
    <citation type="journal article" date="1986" name="Proc. Natl. Acad. Sci. U.S.A." volume="83" first="4859" last="4863">
      <title>Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.</title>
      <authorList>
        <person name="Bishop D.F."/>
        <person name="Calhoun D.H."/>
        <person name="Bernstein H.S."/>
        <person name="Hantzopoulos P."/>
        <person name="Quinn M."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="3014515"/>
      <dbReference type="DOI" id="10.1073/pnas.83.13.4859"/>
    </citation>
    <scope>NUCLEOTIDE SEQUENCE [MRNA] OF 27-429</scope>
    <scope>PARTIAL PROTEIN SEQUENCE</scope>
    <source>
      <tissue>Lung</tissue>
    </source>
  </reference>
  <reference key="7">
    <citation type="journal article" date="1987" name="Gene" volume="58" first="177" last="188">
      <title>A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, alpha-galactosidase A.</title>
      <authorList>
        <person name="Quinn M."/>
        <person name="Hantzopoulos P."/>
        <person name="Fidanza V."/>
        <person name="Calhoun D.H."/>
      </authorList>
      <dbReference type="PubMed" id="2892762"/>
      <dbReference type="DOI" id="10.1016/0378-1119(87)90374-x"/>
    </citation>
    <scope>NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-64</scope>
  </reference>
  <reference key="8">
    <citation type="journal article" date="1988" name="Proc. Natl. Acad. Sci. U.S.A." volume="85" first="3903" last="3907">
      <title>Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.</title>
      <authorList>
        <person name="Bishop D.F."/>
        <person name="Kornreich R."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="2836863"/>
      <dbReference type="DOI" id="10.1073/pnas.85.11.3903"/>
    </citation>
    <scope>NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-64</scope>
  </reference>
  <reference key="9">
    <citation type="journal article" date="1995" name="Nucleic Acids Res." volume="23" first="2636" last="2640">
      <title>Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.</title>
      <authorList>
        <person name="Novo F.J."/>
        <person name="Kruszewski A."/>
        <person name="McDermot K.D."/>
        <person name="Goldspink G."/>
        <person name="Gorecki D.C."/>
      </authorList>
      <dbReference type="PubMed" id="7503918"/>
      <dbReference type="DOI" id="10.1093/nar/23.14.2636"/>
    </citation>
    <scope>RNA EDITING OF POSITION 396</scope>
  </reference>
  <reference key="10">
    <citation type="journal article" date="1996" name="FEBS Lett." volume="393" first="74" last="76">
      <title>Only sphingolipid activator protein B (SAP-B or saposin B) stimulates the degradation of globotriaosylceramide by recombinant human lysosomal alpha-galactosidase in a detergent-free liposomal system.</title>
      <authorList>
        <person name="Kase R."/>
        <person name="Bierfreund U."/>
        <person name="Klein A."/>
        <person name="Kolter T."/>
        <person name="Itoh K."/>
        <person name="Suzuki M."/>
        <person name="Hashimoto Y."/>
        <person name="Sandhoff K."/>
        <person name="Sakuraba H."/>
      </authorList>
      <dbReference type="PubMed" id="8804427"/>
      <dbReference type="DOI" id="10.1016/0014-5793(96)00863-0"/>
    </citation>
    <scope>FUNCTION</scope>
    <scope>CATALYTIC ACTIVITY</scope>
    <scope>ACTIVITY REGULATION</scope>
  </reference>
  <reference key="11">
    <citation type="journal article" date="2009" name="J. Proteome Res." volume="8" first="651" last="661">
      <title>Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.</title>
      <authorList>
        <person name="Chen R."/>
        <person name="Jiang X."/>
        <person name="Sun D."/>
        <person name="Han G."/>
        <person name="Wang F."/>
        <person name="Ye M."/>
        <person name="Wang L."/>
        <person name="Zou H."/>
      </authorList>
      <dbReference type="PubMed" id="19159218"/>
      <dbReference type="DOI" id="10.1021/pr8008012"/>
    </citation>
    <scope>GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-215</scope>
    <source>
      <tissue>Liver</tissue>
    </source>
  </reference>
  <reference key="12">
    <citation type="journal article" date="2011" name="BMC Syst. Biol." volume="5" first="17" last="17">
      <title>Initial characterization of the human central proteome.</title>
      <authorList>
        <person name="Burkard T.R."/>
        <person name="Planyavsky M."/>
        <person name="Kaupe I."/>
        <person name="Breitwieser F.P."/>
        <person name="Buerckstuemmer T."/>
        <person name="Bennett K.L."/>
        <person name="Superti-Furga G."/>
        <person name="Colinge J."/>
      </authorList>
      <dbReference type="PubMed" id="21269460"/>
      <dbReference type="DOI" id="10.1186/1752-0509-5-17"/>
    </citation>
    <scope>IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]</scope>
  </reference>
  <reference key="13">
    <citation type="journal article" date="2015" name="Proteomics" volume="15" first="2519" last="2524">
      <title>N-terminome analysis of the human mitochondrial proteome.</title>
      <authorList>
        <person name="Vaca Jacome A.S."/>
        <person name="Rabilloud T."/>
        <person name="Schaeffer-Reiss C."/>
        <person name="Rompais M."/>
        <person name="Ayoub D."/>
        <person name="Lane L."/>
        <person name="Bairoch A."/>
        <person name="Van Dorsselaer A."/>
        <person name="Carapito C."/>
      </authorList>
      <dbReference type="PubMed" id="25944712"/>
      <dbReference type="DOI" id="10.1002/pmic.201400617"/>
    </citation>
    <scope>IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]</scope>
  </reference>
  <reference key="14">
    <citation type="journal article" date="2004" name="J. Mol. Biol." volume="337" first="319" last="335">
      <title>The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.</title>
      <authorList>
        <person name="Garman S.C."/>
        <person name="Garboczi D.N."/>
      </authorList>
      <dbReference type="PubMed" id="15003450"/>
      <dbReference type="DOI" id="10.1016/j.jmb.2004.01.035"/>
    </citation>
    <scope>X-RAY CRYSTALLOGRAPHY (3.45 ANGSTROMS) OF 32-422 IN COMPLEX WITH PRODUCT</scope>
    <scope>HOMODIMERIZATION</scope>
    <scope>GLYCOSYLATION AT ASN-139; ASN-192 AND ASN-215</scope>
  </reference>
  <reference key="15">
    <citation type="journal article" date="1994" name="Hum. Mutat." volume="3" first="103" last="111">
      <title>Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.</title>
      <authorList>
        <person name="Eng C.M."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="7911050"/>
      <dbReference type="DOI" id="10.1002/humu.1380030204"/>
    </citation>
    <scope>REVIEW ON FD VARIANTS</scope>
  </reference>
  <reference key="16">
    <citation type="journal article" date="1990" name="FEBS Lett." volume="259" first="353" last="356">
      <title>A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.</title>
      <authorList>
        <person name="Koide T."/>
        <person name="Ishiura M."/>
        <person name="Iwai K."/>
        <person name="Inoue M."/>
        <person name="Kaneda Y."/>
        <person name="Okada Y."/>
        <person name="Uchida T."/>
      </authorList>
      <dbReference type="PubMed" id="2152885"/>
      <dbReference type="DOI" id="10.1016/0014-5793(90)80046-l"/>
    </citation>
    <scope>INVOLVEMENT IN FD</scope>
    <scope>VARIANT FD SER-40</scope>
  </reference>
  <reference key="17">
    <citation type="journal article" date="1991" name="N. Engl. J. Med." volume="324" first="395" last="399">
      <title>An atypical variant of Fabry's disease with manifestations confined to the myocardium.</title>
      <authorList>
        <person name="von Scheidt W."/>
        <person name="Eng C.M."/>
        <person name="Fitzmaurice T.F."/>
        <person name="Erdmann E."/>
        <person name="Hubner G."/>
        <person name="Olsen E.G.J."/>
        <person name="Christomanou H."/>
        <person name="Kandolf R."/>
        <person name="Bishop D.F."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="1846223"/>
      <dbReference type="DOI" id="10.1056/nejm199102073240607"/>
    </citation>
    <scope>VARIANT FD VAL-296</scope>
  </reference>
  <reference key="18">
    <citation type="journal article" date="1990" name="Am. J. Hum. Genet." volume="47" first="784" last="789">
      <title>Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.</title>
      <authorList>
        <person name="Sakuraba H."/>
        <person name="Oshima A."/>
        <person name="Fukuhara Y."/>
        <person name="Shimmoto M."/>
        <person name="Nagao Y."/>
        <person name="Bishop D.F."/>
        <person name="Desnick R.J."/>
        <person name="Suzuki Y."/>
      </authorList>
      <dbReference type="PubMed" id="2171331"/>
    </citation>
    <scope>VARIANT FD GLN-301</scope>
  </reference>
  <reference key="19">
    <citation type="journal article" date="1989" name="J. Clin. Invest." volume="83" first="1390" last="1399">
      <title>Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.</title>
      <authorList>
        <person name="Bernstein H.S."/>
        <person name="Bishop D.F."/>
        <person name="Astrin K.H."/>
        <person name="Kornreich R."/>
        <person name="Eng C.M."/>
        <person name="Sakuraba H."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="2539398"/>
      <dbReference type="DOI" id="10.1172/jci114027"/>
    </citation>
    <scope>VARIANT FD TRP-356</scope>
  </reference>
  <reference key="20">
    <citation type="journal article" date="1992" name="Hum. Genet." volume="89" first="29" last="32">
      <title>Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.</title>
      <authorList>
        <person name="Ishii S."/>
        <person name="Sakuraba H."/>
        <person name="Suzuki Y."/>
      </authorList>
      <dbReference type="PubMed" id="1315715"/>
      <dbReference type="DOI" id="10.1007/bf00207037"/>
    </citation>
    <scope>VARIANTS FD GLN-66; CYS-112; GLU-279; GLN-301 AND ARG-328</scope>
  </reference>
  <reference key="21">
    <citation type="journal article" date="1993" name="Am. J. Hum. Genet." volume="53" first="1186" last="1197">
      <title>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</title>
      <authorList>
        <person name="Eng C.M."/>
        <person name="Resnick-Silverman L.A."/>
        <person name="Niehaus D.J."/>
        <person name="Astrin K.H."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="7504405"/>
    </citation>
    <scope>VARIANTS FD SER-34; GLY-56; ARG-162; GLN-227; VAL-264; VAL-266; PHE-297; TYR-313; ALA-328 AND ARG-404 DEL</scope>
  </reference>
  <reference key="22">
    <citation type="journal article" date="1993" name="Hum. Mol. Genet." volume="2" first="1051" last="1053">
      <title>Mutation analysis in patients with the typical form of Anderson-Fabry disease.</title>
      <authorList>
        <person name="Davies J.P."/>
        <person name="Winchester B.G."/>
        <person name="Malcolm S."/>
      </authorList>
      <dbReference type="PubMed" id="8395937"/>
      <dbReference type="DOI" id="10.1093/hmg/2.7.1051"/>
    </citation>
    <scope>VARIANTS FD SER-34; SER-215; ALA-269; LYS-327 AND ARG-361</scope>
  </reference>
  <reference key="23">
    <citation type="journal article" date="1994" name="Hum. Mol. Genet." volume="3" first="667" last="669">
      <title>Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.</title>
      <authorList>
        <person name="Davies J.P."/>
        <person name="Christomanou H."/>
        <person name="Winchester B.G."/>
        <person name="Malcolm S."/>
      </authorList>
      <dbReference type="PubMed" id="8069316"/>
      <dbReference type="DOI" id="10.1093/hmg/3.4.667"/>
    </citation>
    <scope>VARIANTS FD ARG-35; LEU-49; VAL-165 AND GLU-316</scope>
  </reference>
  <reference key="24">
    <citation type="journal article" date="1994" name="Hum. Mol. Genet." volume="3" first="1795" last="1799">
      <title>Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.</title>
      <authorList>
        <person name="Eng C.M."/>
        <person name="Niehaus D.J."/>
        <person name="Enriquez A.L."/>
        <person name="Burgert T.S."/>
        <person name="Ludman M.D."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="7531540"/>
      <dbReference type="DOI" id="10.1093/hmg/3.10.1795"/>
    </citation>
    <scope>VARIANTS FD SER-52; PHE-56; LYS-59; ARG-89; LYS-100; HIS-112; PRO-131; PRO-143; VAL-144; SER-146; TYR-172; ASN-219; ASN-244; LYS-272; ASP-288 AND GLN-342</scope>
  </reference>
  <reference key="25">
    <citation type="journal article" date="1995" name="Biochem. Biophys. Res. Commun." volume="214" first="1219" last="1224">
      <title>Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.</title>
      <authorList>
        <person name="Okumiya T."/>
        <person name="Ishii S."/>
        <person name="Takenaka T."/>
        <person name="Kase R."/>
        <person name="Kamei S."/>
        <person name="Sakuraba H."/>
        <person name="Suzuki Y."/>
      </authorList>
      <dbReference type="PubMed" id="7575533"/>
      <dbReference type="DOI" id="10.1006/bbrc.1995.2416"/>
    </citation>
    <scope>VARIANTS FD GLN-66; CYS-112; VAL-156; VAL-166; ALA-260; GLU-279; ILE-296; GLN-301; LYS-320; ARG-328 AND SER-373</scope>
  </reference>
  <reference key="26">
    <citation type="journal article" date="1995" name="Hum. Genet." volume="95" first="557" last="561">
      <title>Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.</title>
      <authorList>
        <person name="Okumiya T."/>
        <person name="Ishii S."/>
        <person name="Kase R."/>
        <person name="Kamei S."/>
        <person name="Sakuraba H."/>
        <person name="Suzuki Y."/>
      </authorList>
      <dbReference type="PubMed" id="7759078"/>
      <dbReference type="DOI" id="10.1007/bf00223869"/>
    </citation>
    <scope>VARIANTS FD TYR-142; VAL-156 AND VAL-166</scope>
  </reference>
  <reference key="27">
    <citation type="journal article" date="1995" name="Hum. Mutat." volume="5" first="277" last="278">
      <title>Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.</title>
      <authorList>
        <person name="Madsen K.M."/>
        <person name="Hasholt L."/>
        <person name="Soerensen S.A."/>
        <person name="Lagerstroem Fermer M."/>
        <person name="Dahl N."/>
      </authorList>
      <dbReference type="PubMed" id="7599642"/>
      <dbReference type="DOI" id="10.1002/humu.1380050316"/>
    </citation>
    <scope>VARIANTS FD PRO-32; SER-34; ASP-85; THR-156 AND GLN-301</scope>
  </reference>
  <reference key="28">
    <citation type="journal article" date="1995" name="N. Engl. J. Med." volume="333" first="288" last="293">
      <title>An atypical variant of Fabry's disease in men with left ventricular hypertrophy.</title>
      <authorList>
        <person name="Nakao S."/>
        <person name="Takenaka T."/>
        <person name="Maeda M."/>
        <person name="Kodama C."/>
        <person name="Tanaka A."/>
        <person name="Tahara M."/>
        <person name="Yoshida A."/>
        <person name="Kuriyama M."/>
        <person name="Hayashibe H."/>
        <person name="Sakuraba H."/>
        <person name="Tanaka H."/>
      </authorList>
      <dbReference type="PubMed" id="7596372"/>
      <dbReference type="DOI" id="10.1056/nejm199508033330504"/>
    </citation>
    <scope>VARIANTS FD PRO-20 AND ILE-296</scope>
  </reference>
  <reference key="29">
    <citation type="journal article" date="1996" name="Clin. Nephrol." volume="45" first="289" last="294">
      <title>Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.</title>
      <authorList>
        <person name="Sawada K."/>
        <person name="Mizoguchi K."/>
        <person name="Hishida A."/>
        <person name="Kaneko E."/>
        <person name="Koide Y."/>
        <person name="Nishimura K."/>
        <person name="Kimura M."/>
      </authorList>
      <dbReference type="PubMed" id="8738659"/>
    </citation>
    <scope>VARIANT FD GLN-301</scope>
  </reference>
  <reference key="30">
    <citation type="journal article" date="1996" name="Eur. J. Hum. Genet." volume="4" first="219" last="224">
      <title>Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.</title>
      <authorList>
        <person name="Davies J.P."/>
        <person name="Eng C.M."/>
        <person name="Hill J.A."/>
        <person name="Malcolm S."/>
        <person name="MacDermot K."/>
        <person name="Winchester B.G."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="8875188"/>
      <dbReference type="DOI" id="10.1159/000472202"/>
    </citation>
    <scope>VARIANTS FD VAL-42; SER-49; TYR-56; HIS-92; GLY-93; THR-205; CYS-236; GLY-287; HIS-298 AND ARG-340</scope>
  </reference>
  <reference key="31">
    <citation type="journal article" date="1996" name="Hum. Genet." volume="97" first="468" last="470">
      <title>Novel trinucleotide deletion in Fabry's disease.</title>
      <authorList>
        <person name="Cariolou M.A."/>
        <person name="Christodoulides M."/>
        <person name="Manoli P."/>
        <person name="Kokkofitou A."/>
        <person name="Tsambaos D."/>
      </authorList>
      <dbReference type="PubMed" id="8834244"/>
      <dbReference type="DOI" id="10.1007/bf02267068"/>
    </citation>
    <scope>VARIANT FD PHE-383 DEL</scope>
  </reference>
  <reference key="32">
    <citation type="journal article" date="1996" name="Hum. Genet." volume="98" first="719" last="726">
      <title>Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.</title>
      <authorList>
        <person name="Germain D.P."/>
        <person name="Biasotto M."/>
        <person name="Tosi M."/>
        <person name="Meo T."/>
        <person name="Kahn A."/>
        <person name="Poenaru L."/>
      </authorList>
      <dbReference type="PubMed" id="8931708"/>
      <dbReference type="DOI" id="10.1007/s004390050292"/>
    </citation>
    <scope>VARIANTS FD ARG-52; CYS-162; ARG-265 AND 316-VAL--ASP-322 DEL</scope>
  </reference>
  <reference key="33">
    <citation type="journal article" date="1996" name="Hum. Mutat." volume="8" first="38" last="43">
      <title>A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.</title>
      <authorList>
        <person name="Blanch L.C."/>
        <person name="Meaney C."/>
        <person name="Morris C.P."/>
      </authorList>
      <dbReference type="PubMed" id="8807334"/>
      <dbReference type="DOI" id="10.1002/(sici)1098-1004(1996)8:1&lt;38::aid-humu5&gt;3.0.co;2-l"/>
    </citation>
    <scope>VARIANTS FD ARG-52; GLU-128; THR-205; THR-284; LYS-298 AND GLU-358 DEL</scope>
  </reference>
  <reference key="34">
    <citation type="journal article" date="1996" name="J. Med. Genet." volume="33" first="682" last="688">
      <title>Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.</title>
      <authorList>
        <person name="Redonnet-Vernhet I."/>
        <person name="Ploos van Amstel J.K."/>
        <person name="Jansen R.P.M."/>
        <person name="Wevers R.A."/>
        <person name="Salvayre R."/>
        <person name="Levade T."/>
      </authorList>
      <dbReference type="PubMed" id="8863162"/>
      <dbReference type="DOI" id="10.1136/jmg.33.8.682"/>
    </citation>
    <scope>VARIANT FD ASN-231</scope>
  </reference>
  <reference key="35">
    <citation type="journal article" date="1997" name="Brain Dev." volume="19" first="111" last="116">
      <title>Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.</title>
      <authorList>
        <person name="Takata T."/>
        <person name="Okumiya T."/>
        <person name="Hayashibe H."/>
        <person name="Shimmoto M."/>
        <person name="Kase R."/>
        <person name="Itoh K."/>
        <person name="Utsumi K."/>
        <person name="Kamei S."/>
        <person name="Sakuraba H."/>
      </authorList>
      <dbReference type="PubMed" id="9105656"/>
      <dbReference type="DOI" id="10.1016/s0387-7604(96)00486-x"/>
    </citation>
    <scope>VARIANTS FD PRO-20; SER-40; GLN-66; VAL-72; CYS-112; TYR-142; VAL-156; VAL-166; ASN-242; ALA-260; ASP-261; GLU-279; ILE-296; GLN-301; LYS-320; ARG-328; GLU-358 DEL AND SER-373</scope>
  </reference>
  <reference key="36">
    <citation type="journal article" date="1997" name="Mol. Med." volume="3" first="174" last="182">
      <title>Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.</title>
      <authorList>
        <person name="Eng C.M."/>
        <person name="Ashley G.A."/>
        <person name="Burgert T.S."/>
        <person name="Enriquez A.L."/>
        <person name="D'Souza M."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="9100224"/>
      <dbReference type="DOI" id="10.1007/bf03401671"/>
    </citation>
    <scope>VARIANTS FD VAL-31; 45-LEU-HIS-46 DELINS ARG-SER; ARG-46; CYS-86; PRO-89; THR-91; TYR-92; TYR-94; VAL-97; THR-100; LEU-113; SER-134; ARG-138; THR-143; ARG-148; VAL-163; VAL-170; TYR-202; 205-PRO--TYR-207 DEL; ASP-216; SER-263; CYS-287; SER-298 AND ARG-404 DEL</scope>
  </reference>
  <reference key="37">
    <citation type="journal article" date="1998" name="Hum. Mutat." volume="11" first="328" last="330">
      <title>Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease.</title>
      <authorList>
        <person name="Chen C.-H."/>
        <person name="Shyu P.-W."/>
        <person name="Wu S.-J."/>
        <person name="Sheu S.-S."/>
        <person name="Desnick R.J."/>
        <person name="Hsiao K.-J."/>
      </authorList>
      <dbReference type="PubMed" id="9554750"/>
      <dbReference type="DOI" id="10.1002/(sici)1098-1004(1998)11:4&lt;328::aid-humu11&gt;3.0.co;2-n"/>
    </citation>
    <scope>VARIANT FD THR-65</scope>
  </reference>
  <reference key="38">
    <citation type="journal article" date="1998" name="Hum. Mutat. Suppl." volume="1" first="S139" last="S140">
      <title>A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.</title>
      <authorList>
        <person name="Miyazaki T."/>
        <person name="Kajita M."/>
        <person name="Ohmori S."/>
        <person name="Mizutani N."/>
        <person name="Niwa T."/>
        <person name="Murata Y."/>
        <person name="Seo H."/>
      </authorList>
      <dbReference type="PubMed" id="9452068"/>
      <dbReference type="DOI" id="10.1002/humu.1380110147"/>
    </citation>
    <scope>VARIANT FD LYS-358</scope>
  </reference>
  <reference key="39">
    <citation type="journal article" date="1998" name="Hum. Mutat. Suppl." volume="1" first="S213" last="S216">
      <title>Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.</title>
      <authorList>
        <person name="Okumiya T."/>
        <person name="Kawamura O."/>
        <person name="Itoh K."/>
        <person name="Kase R."/>
        <person name="Ishii S."/>
        <person name="Kamei S."/>
        <person name="Sakuraba H."/>
      </authorList>
      <dbReference type="PubMed" id="9452090"/>
      <dbReference type="DOI" id="10.1002/humu.1380110169"/>
    </citation>
    <scope>VARIANT FD VAL-72</scope>
  </reference>
  <reference key="40">
    <citation type="journal article" date="1998" name="Hum. Mutat. Suppl." volume="1" first="S288" last="S290">
      <title>Mutation analysis in 11 French patients with Fabry disease.</title>
      <authorList>
        <person name="Guffon N."/>
        <person name="Froissart R."/>
        <person name="Chevalier-Porst F."/>
        <person name="Maire I."/>
      </authorList>
      <dbReference type="PubMed" id="9452111"/>
      <dbReference type="DOI" id="10.1002/humu.1380110190"/>
    </citation>
    <scope>VARIANTS FD SER-40; SER-215; ASP-224; TYR-313 AND TRP-THR-SER-247 INS</scope>
  </reference>
  <reference key="41">
    <citation type="journal article" date="1999" name="Biochem. Biophys. Res. Commun." volume="257" first="708" last="713">
      <title>Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.</title>
      <authorList>
        <person name="Germain D.P."/>
        <person name="Poenaru L."/>
      </authorList>
      <dbReference type="PubMed" id="10208848"/>
      <dbReference type="DOI" id="10.1006/bbrc.1999.0310"/>
    </citation>
    <scope>VARIANTS FD TRP-202; GLY-223; ASP-224; GLN-301 AND LYS-327</scope>
  </reference>
  <reference key="42">
    <citation type="journal article" date="1999" name="Clin. Chim. Acta" volume="280" first="81" last="89">
      <title>The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.</title>
      <authorList>
        <person name="Beyer E.M."/>
        <person name="Karpova E.A."/>
        <person name="Udalova O.V."/>
        <person name="Ploos van Amstel J.K."/>
        <person name="van Diggelen O.P."/>
        <person name="Tsvetkova I.V."/>
      </authorList>
      <dbReference type="PubMed" id="10090526"/>
      <dbReference type="DOI" id="10.1016/s0009-8981(98)00133-8"/>
    </citation>
    <scope>VARIANT FD LYS-341</scope>
  </reference>
  <reference key="43">
    <citation type="journal article" date="2000" name="Biochim. Biophys. Acta" volume="1501" first="227" last="235">
      <title>Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.</title>
      <authorList>
        <person name="Kase R."/>
        <person name="Bierfreund U."/>
        <person name="Klein A."/>
        <person name="Kolter T."/>
        <person name="Utsumi K."/>
        <person name="Itoh K."/>
        <person name="Sandhoff K."/>
        <person name="Sakuraba H."/>
      </authorList>
      <dbReference type="PubMed" id="10838196"/>
      <dbReference type="DOI" id="10.1016/s0925-4439(00)00024-7"/>
    </citation>
    <scope>CHARACTERIZATION OF VARIANTS FD GLU-279 AND GLN-301</scope>
    <scope>FUNCTION</scope>
    <scope>CATALYTIC ACTIVITY</scope>
    <scope>ACTIVITY REGULATION</scope>
  </reference>
  <reference key="44">
    <citation type="journal article" date="1999" name="Mol. Med." volume="5" first="806" last="811">
      <title>Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.</title>
      <authorList>
        <person name="Topaloglu A.K."/>
        <person name="Ashley G.A."/>
        <person name="Tong B."/>
        <person name="Shabbeer J."/>
        <person name="Astrin K.H."/>
        <person name="Eng C.M."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="10666480"/>
      <dbReference type="DOI" id="10.1007/bf03401993"/>
    </citation>
    <scope>VARIANTS FD VAL-42; CYS-112; ARG-142; ARG-148; VAL-165; ASP-183; SER-215; CYS-235; LEU-236; HIS-244; LEU-259; ILE-267; PHE-289; GLU-321; GLU-358 DEL AND TYR-378</scope>
  </reference>
  <reference key="45">
    <citation type="journal article" date="2000" name="Clin. Genet." volume="58" first="228" last="233">
      <title>Identification of four novel mutations in five unrelated Korean families with Fabry disease.</title>
      <authorList>
        <person name="Lee J.-K."/>
        <person name="Kim G.-H."/>
        <person name="Kim J.-S."/>
        <person name="Kim K.-K."/>
        <person name="Lee M.-C."/>
        <person name="Yoo H.-W."/>
      </authorList>
      <dbReference type="PubMed" id="11076046"/>
      <dbReference type="DOI" id="10.1034/j.1399-0004.2000.580311.x"/>
    </citation>
    <scope>VARIANT FD ASN-266</scope>
  </reference>
  <reference key="46">
    <citation type="journal article" date="2000" name="J. Invest. Med." volume="48" first="227" last="235">
      <title>Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.</title>
      <authorList>
        <person name="Ashton-Prolla P."/>
        <person name="Tong B."/>
        <person name="Shabbeer J."/>
        <person name="Astrin K.H."/>
        <person name="Eng C.M."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="10916280"/>
    </citation>
    <scope>VARIANTS FD LEU-40; SER-95; CYS-112; HIS-112; ASN-148; ARG-172; VAL-187; SER-224; ARG-226; GLN-227; THR-230; HIS-266; GLN-301 AND TYR-320</scope>
  </reference>
  <reference key="47">
    <citation type="journal article" date="2001" name="Hum. Mutat." volume="17" first="353" last="353">
      <title>Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.</title>
      <authorList>
        <person name="Germain D.P."/>
        <person name="Salard D."/>
        <person name="Fellmann F."/>
        <person name="Azibi K."/>
        <person name="Caillaud C."/>
        <person name="Bernard M.-C."/>
        <person name="Poenaru L."/>
      </authorList>
      <dbReference type="PubMed" id="11295840"/>
      <dbReference type="DOI" id="10.1002/humu.41"/>
    </citation>
    <scope>VARIANT FD ASP-373</scope>
  </reference>
  <reference key="48">
    <citation type="journal article" date="2001" name="Hum. Mutat." volume="18" first="459" last="459">
      <title>Fabry disease: 20 novel GLA mutations in 35 families.</title>
      <authorList>
        <person name="Blaydon D."/>
        <person name="Hill J.A."/>
        <person name="Winchester B.G."/>
      </authorList>
      <dbReference type="PubMed" id="11668641"/>
      <dbReference type="DOI" id="10.1002/humu.1219"/>
    </citation>
    <scope>VARIANTS FD TYR-46; GLY-47; PRO-49; SER-94; SER-95; CYS-112; SER-113; THR-143; SER-215; ARG-258; ARG-259; ILE-267; HIS-279; HIS-280; HIS-298; TYR-313; HIS-363; ASP-377; ALA-409 AND THR-409</scope>
  </reference>
  <reference key="49">
    <citation type="journal article" date="2002" name="Medicine (Baltimore)" volume="81" first="122" last="138">
      <title>Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.</title>
      <authorList>
        <person name="Branton M.H."/>
        <person name="Schiffmann R."/>
        <person name="Sabnis S.G."/>
        <person name="Murray G.J."/>
        <person name="Quirk J.M."/>
        <person name="Altarescu G."/>
        <person name="Goldfarb L."/>
        <person name="Brady R.O."/>
        <person name="Balow J.E."/>
        <person name="Austin H.A. III"/>
        <person name="Kopp J.B."/>
      </authorList>
      <dbReference type="PubMed" id="11889412"/>
      <dbReference type="DOI" id="10.1097/00005792-200203000-00003"/>
    </citation>
    <scope>VARIANT FD PRO-143</scope>
  </reference>
  <reference key="50">
    <citation type="journal article" date="2003" name="Clin. Genet." volume="63" first="205" last="209">
      <title>Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.</title>
      <authorList>
        <person name="Yang C.-C."/>
        <person name="Lai L.-W."/>
        <person name="Whitehair O."/>
        <person name="Hwu W.-L."/>
        <person name="Chiang S.-C."/>
        <person name="Lien Y.-H.H."/>
      </authorList>
      <dbReference type="PubMed" id="12694230"/>
      <dbReference type="DOI" id="10.1034/j.1399-0004.2003.00050.x"/>
    </citation>
    <scope>VARIANT FD ALA-410</scope>
  </reference>
  <reference key="51">
    <citation type="journal article" date="2003" name="Clin. Genet." volume="63" first="476" last="482">
      <title>Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.</title>
      <authorList>
        <person name="Lai L.-W."/>
        <person name="Whitehair O."/>
        <person name="Wu M.-J."/>
        <person name="O'Meara M."/>
        <person name="Lien Y.-H.H."/>
      </authorList>
      <dbReference type="PubMed" id="12786754"/>
      <dbReference type="DOI" id="10.1034/j.1399-0004.2003.00077.x"/>
    </citation>
    <scope>CHARACTERIZATION OF VARIANT FD THR-65</scope>
  </reference>
  <reference key="52">
    <citation type="journal article" date="2004" name="Eur. J. Hum. Genet." volume="12" first="678" last="681">
      <title>Remarkable variability in renal disease in a large Slovenian family with Fabry disease.</title>
      <authorList>
        <person name="Verovnik F."/>
        <person name="Benko D."/>
        <person name="Vujkovac B."/>
        <person name="Linthorst G.E."/>
      </authorList>
      <dbReference type="PubMed" id="15162124"/>
      <dbReference type="DOI" id="10.1038/sj.ejhg.5201184"/>
    </citation>
    <scope>VARIANT FD SER-272</scope>
  </reference>
  <reference key="53">
    <citation type="journal article" date="2005" name="Hum. Mutat." volume="25" first="299" last="305">
      <title>Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.</title>
      <authorList>
        <person name="Shabbeer J."/>
        <person name="Robinson M."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="15712228"/>
      <dbReference type="DOI" id="10.1002/humu.20144"/>
    </citation>
    <scope>VARIANTS FD VAL-31; LEU-42; ARG-43; ASN-93; CYS-112; HIS-112; SER-112; SER-134; VAL-135; ASP-171; PHE-201; SER-215; GLU-234; ASP-261; TYR-264; VAL-264; GLY-276; PRO-285; PHE-300; ALA-328; VAL-328; LYS-338; ALA-358; GLU-358 DEL; ARG-404 DEL AND SER-414</scope>
  </reference>
  <reference key="54">
    <citation type="journal article" date="2006" name="Arch. Neurol." volume="63" first="453" last="457">
      <title>Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome.</title>
      <authorList>
        <person name="Nance C.S."/>
        <person name="Klein C.J."/>
        <person name="Banikazemi M."/>
        <person name="Dikman S.H."/>
        <person name="Phelps R.G."/>
        <person name="McArthur J.C."/>
        <person name="Rodriguez M."/>
        <person name="Desnick R.J."/>
      </authorList>
      <dbReference type="PubMed" id="16533976"/>
      <dbReference type="DOI" id="10.1001/archneur.63.3.453"/>
    </citation>
    <scope>VARIANT FD THR-143</scope>
  </reference>
  <reference key="55">
    <citation type="journal article" date="2009" name="Hum. Mutat." volume="30" first="1397" last="1405">
      <title>Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G&gt;A (IVS4+919G&gt;A).</title>
      <authorList>
        <person name="Hwu W.L."/>
        <person name="Chien Y.H."/>
        <person name="Lee N.C."/>
        <person name="Chiang S.C."/>
        <person name="Dobrovolny R."/>
        <person name="Huang A.C."/>
        <person name="Yeh H.Y."/>
        <person name="Chao M.C."/>
        <person name="Lin S.J."/>
        <person name="Kitagawa T."/>
        <person name="Desnick R.J."/>
        <person name="Hsu L.W."/>
      </authorList>
      <dbReference type="PubMed" id="19621417"/>
      <dbReference type="DOI" id="10.1002/humu.21074"/>
    </citation>
    <scope>VARIANTS FD 12-CYS--LEU-14 DEL; PRO-46; GLN-66; ASN-93; VAL-120; THR-219; GLN-356 AND CYS-360</scope>
    <scope>CHARACTERIZATION OF VARIANTS FD 12-CYS--LEU-14 DEL; PRO-46; GLN-66; ASN-93; VAL-120; THR-219; GLN-356 AND CYS-360</scope>
  </reference>
  <reference key="56">
    <citation type="journal article" date="2016" name="Hum. Mutat." volume="37" first="43" last="51">
      <title>Functional and clinical consequences of novel alpha-galactosidase A mutations in Fabry disease.</title>
      <authorList>
        <person name="Lukas J."/>
        <person name="Scalia S."/>
        <person name="Eichler S."/>
        <person name="Pockrandt A.M."/>
        <person name="Dehn N."/>
        <person name="Cozma C."/>
        <person name="Giese A.K."/>
        <person name="Rolfs A."/>
      </authorList>
      <dbReference type="PubMed" id="26415523"/>
      <dbReference type="DOI" id="10.1002/humu.22910"/>
    </citation>
    <scope>CHARACTERIZATION OF VARIANTS FD ASP-20; PRO-20; PRO-21; GLY-33; GLU-35; TRP-36; SER-40; THR-42; PRO-45; ASP-48; TYR-56; LEU-60; PHE-64; ASP-80; HIS-86; ASN-91; THR-91; SER-94; TYR-94; ILE-113; THR-121; LEU-164; GLY-164; GLN-167; PHE-180; VAL-187; SER-196; THR-198; TYR-202; ARG-204; ARG-213; LEU-214; MET-219; PRO-227; SER-228; VAL-242; PHE-243; PRO-247; LYS-249; THR-253; ALA-254; ARG-259; ARG-262; GLY-269; GLY-276; VAL-309; ASN-315; ALA-316; SER-317; TYR-320; ARG-323; ARG-327; LEU-327; ARG-328; ARG-330; PRO-342; GLY-352; PRO-356; LYS-358; SER-360; ALA-375; SER-392; SER-399 AND ARG-404 DEL</scope>
    <scope>CHARACTERIZATION OF VARIANTS PRO-3; VAL-3; GLY-71; THR-154; VAL-289 AND ASN-313</scope>
    <scope>CATALYTIC ACTIVITY</scope>
    <scope>FUNCTION</scope>
  </reference>
  <reference key="57">
    <citation type="journal article" date="2016" name="Int. J. Neurosci." volume="2016" first="1" last="6">
      <title>A novel mutation of alpha-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.</title>
      <authorList>
        <person name="Ge W."/>
        <person name="Wei B."/>
        <person name="Zhu H."/>
        <person name="Miao Z."/>
        <person name="Zhang W."/>
        <person name="Leng C."/>
        <person name="Li J."/>
        <person name="Zhang D."/>
        <person name="Sun M."/>
        <person name="Xu X."/>
      </authorList>
      <dbReference type="PubMed" id="27211852"/>
      <dbReference type="DOI" id="10.1080/00207454.2016.1191483"/>
    </citation>
    <scope>VARIANT FD ARG-47</scope>
    <scope>CHARACTERIZATION OF VARIANTS FD ARG-47 AND GLY-47</scope>
    <scope>CATALYTIC ACTIVITY</scope>
    <scope>FUNCTION</scope>
  </reference>
  <reference key="58">
    <citation type="journal article" date="2016" name="Orphanet J. Rare Dis." volume="11" first="54" last="54">
      <title>Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.</title>
      <authorList>
        <person name="Lenders M."/>
        <person name="Weidemann F."/>
        <person name="Kurschat C."/>
        <person name="Canaan-Kuehl S."/>
        <person name="Duning T."/>
        <person name="Stypmann J."/>
        <person name="Schmitz B."/>
        <person name="Reiermann S."/>
        <person name="Kraemer J."/>
        <person name="Blaschke D."/>
        <person name="Wanner C."/>
        <person name="Brand S.M."/>
        <person name="Brand E."/>
      </authorList>
      <dbReference type="PubMed" id="27142856"/>
      <dbReference type="DOI" id="10.1186/s13023-016-0441-z"/>
    </citation>
    <scope>VARIANT FD THR-143</scope>
  </reference>
  <comment type="function">
    <text evidence="5 37">Catalyzes the hydrolysis of glycosphingolipids and participates in their degradation in the lysosome.</text>
  </comment>
  <comment type="catalytic activity">
    <reaction evidence="24 26">
      <text>Hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactolipids.</text>
      <dbReference type="EC" id="3.2.1.22"/>
    </reaction>
  </comment>
  <comment type="catalytic activity">
    <reaction evidence="5 37">
      <text>a globoside Gb3Cer (d18:1(4E)) + H2O = a beta-D-Gal-(1-&gt;4)-beta-D-Glc-(1&lt;-&gt;1)-Cer(d18:1(4E)) + D-galactose</text>
      <dbReference type="Rhea" id="RHEA:21112"/>
      <dbReference type="ChEBI" id="CHEBI:4139"/>
      <dbReference type="ChEBI" id="CHEBI:15377"/>
      <dbReference type="ChEBI" id="CHEBI:17950"/>
      <dbReference type="ChEBI" id="CHEBI:18313"/>
    </reaction>
    <physiologicalReaction direction="left-to-right" evidence="50 51">
      <dbReference type="Rhea" id="RHEA:21113"/>
    </physiologicalReaction>
  </comment>
  <comment type="catalytic activity">
    <reaction evidence="5 37">
      <text>a globoside Gb3Cer + H2O = a beta-D-galactosyl-(1-&gt;4)-beta-D-glucosyl-(1&lt;-&gt;1)-ceramide + D-galactose</text>
      <dbReference type="Rhea" id="RHEA:48020"/>
      <dbReference type="ChEBI" id="CHEBI:4139"/>
      <dbReference type="ChEBI" id="CHEBI:15377"/>
      <dbReference type="ChEBI" id="CHEBI:79208"/>
      <dbReference type="ChEBI" id="CHEBI:88154"/>
    </reaction>
    <physiologicalReaction direction="left-to-right" evidence="50 51">
      <dbReference type="Rhea" id="RHEA:48021"/>
    </physiologicalReaction>
  </comment>
  <comment type="activity regulation">
    <text evidence="5 37">Galactosylgalactosylglucosylceramidase activity is stimulated by saposin B and ammonium chloride.</text>
  </comment>
  <comment type="subunit">
    <text evidence="14">Homodimer.</text>
  </comment>
  <comment type="interaction">
    <interactant intactId="EBI-2513305">
      <id>P06280</id>
    </interactant>
    <interactant intactId="EBI-1048799">
      <id>Q2TAA5</id>
      <label>ALG11</label>
    </interactant>
    <organismsDiffer>false</organismsDiffer>
    <experiments>2</experiments>
  </comment>
  <comment type="interaction">
    <interactant intactId="EBI-2513305">
      <id>P06280</id>
    </interactant>
    <interactant intactId="EBI-1057058">
      <id>Q99523</id>
      <label>SORT1</label>
    </interactant>
    <organismsDiffer>false</organismsDiffer>
    <experiments>3</experiments>
  </comment>
  <comment type="subcellular location">
    <subcellularLocation>
      <location>Lysosome</location>
    </subcellularLocation>
  </comment>
  <comment type="RNA editing">
    <location>
      <position position="396" evidence="27"/>
    </location>
    <text>Partially edited.</text>
  </comment>
  <comment type="disease" evidence="2 3 4 5 6 7 8 9 10 11 12 13 15 16 17 18 20 21 22 23 24 25 26 28 29 30 31 32 33 34 35 36 38 39 40 41 42 43 44 45 46 47 48">
    <disease id="DI-01544">
      <name>Fabry disease</name>
      <acronym>FD</acronym>
      <description>Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.</description>
      <dbReference type="MIM" id="301500"/>
    </disease>
    <text>The disease is caused by variants affecting the gene represented in this entry.</text>
  </comment>
  <comment type="pharmaceutical">
    <text>Available under the names Replagal (from Shire) and Fabrazyme (from Genzyme). Used as a long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease. The differences between Replagal (also known as agalsidase alpha) and Fabrazyme (also known as agalsidase beta) lies in the glycosylation patterns. Agalsidase beta is produced in the hamster CHO cell line while agalsidase alpha is produced in human cell lines.</text>
  </comment>
  <comment type="similarity">
    <text evidence="49">Belongs to the glycosyl hydrolase 27 family.</text>
  </comment>
  <dbReference type="EC" id="3.2.1.22" evidence="24 26"/>
  <dbReference type="EMBL" id="X05790">
    <property type="protein sequence ID" value="CAA29232.1"/>
    <property type="molecule type" value="mRNA"/>
  </dbReference>
  <dbReference type="EMBL" id="X14448">
    <property type="protein sequence ID" value="CAA32617.1"/>
    <property type="molecule type" value="Genomic_DNA"/>
  </dbReference>
  <dbReference type="EMBL" id="U78027">
    <property type="protein sequence ID" value="AAB64203.1"/>
    <property type="molecule type" value="Genomic_DNA"/>
  </dbReference>
  <dbReference type="EMBL" id="AL035422">
    <property type="status" value="NOT_ANNOTATED_CDS"/>
    <property type="molecule type" value="Genomic_DNA"/>
  </dbReference>
  <dbReference type="EMBL" id="BC002689">
    <property type="protein sequence ID" value="AAH02689.1"/>
    <property type="molecule type" value="mRNA"/>
  </dbReference>
  <dbReference type="EMBL" id="M13571">
    <property type="protein sequence ID" value="AAA51676.1"/>
    <property type="molecule type" value="Genomic_DNA"/>
  </dbReference>
  <dbReference type="EMBL" id="D00039">
    <property type="protein sequence ID" value="BAA34059.1"/>
    <property type="molecule type" value="mRNA"/>
  </dbReference>
  <dbReference type="EMBL" id="M18242">
    <property type="protein sequence ID" value="AAA52514.1"/>
    <property type="molecule type" value="Genomic_DNA"/>
  </dbReference>
  <dbReference type="EMBL" id="X16889">
    <property type="status" value="NOT_ANNOTATED_CDS"/>
    <property type="molecule type" value="mRNA"/>
  </dbReference>
  <dbReference type="EMBL" id="M20317">
    <property type="protein sequence ID" value="AAA52559.1"/>
    <property type="status" value="ALT_SEQ"/>
    <property type="molecule type" value="Genomic_DNA"/>
  </dbReference>
  <dbReference type="CCDS" id="CCDS14484.1"/>
  <dbReference type="PIR" id="S04081">
    <property type="entry name" value="GBHUA"/>
  </dbReference>
  <dbReference type="RefSeq" id="NP_000160.1">
    <property type="nucleotide sequence ID" value="NM_000169.2"/>
  </dbReference>
  <dbReference type="PDB" id="1R46">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="3.25 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="1R47">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="3.45 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3GXN">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="3.01 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3GXP">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.20 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3GXT">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.70 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3HG2">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.30 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3HG3">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="1.90 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3HG4">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.30 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3HG5">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.30 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3LX9">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.04 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3LXA">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="3.04 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3LXB">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.85 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3LXC">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.35 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3S5Y">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.10 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3S5Z">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.00 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="3TV8">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.64 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="4NXS">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.55 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="6IBK">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="1.99 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="6IBM">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.07 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="6IBR">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.02 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="6IBT">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.04 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="8K7D">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.61 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="8K7E">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.20 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="8K7F">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="1.98 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="8K7G">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.32 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="8K7H">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.28 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="8K7I">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.12 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="8K7J">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.01 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="8K7K">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.00 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="8K7L">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="2.00 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDB" id="9AVS">
    <property type="method" value="X-ray"/>
    <property type="resolution" value="3.53 A"/>
    <property type="chains" value="A/B=32-429"/>
  </dbReference>
  <dbReference type="PDBsum" id="1R46"/>
  <dbReference type="PDBsum" id="1R47"/>
  <dbReference type="PDBsum" id="3GXN"/>
  <dbReference type="PDBsum" id="3GXP"/>
  <dbReference type="PDBsum" id="3GXT"/>
  <dbReference type="PDBsum" id="3HG2"/>
  <dbReference type="PDBsum" id="3HG3"/>
  <dbReference type="PDBsum" id="3HG4"/>
  <dbReference type="PDBsum" id="3HG5"/>
  <dbReference type="PDBsum" id="3LX9"/>
  <dbReference type="PDBsum" id="3LXA"/>
  <dbReference type="PDBsum" id="3LXB"/>
  <dbReference type="PDBsum" id="3LXC"/>
  <dbReference type="PDBsum" id="3S5Y"/>
  <dbReference type="PDBsum" id="3S5Z"/>
  <dbReference type="PDBsum" id="3TV8"/>
  <dbReference type="PDBsum" id="4NXS"/>
  <dbReference type="PDBsum" id="6IBK"/>
  <dbReference type="PDBsum" id="6IBM"/>
  <dbReference type="PDBsum" id="6IBR"/>
  <dbReference type="PDBsum" id="6IBT"/>
  <dbReference type="PDBsum" id="8K7D"/>
  <dbReference type="PDBsum" id="8K7E"/>
  <dbReference type="PDBsum" id="8K7F"/>
  <dbReference type="PDBsum" id="8K7G"/>
  <dbReference type="PDBsum" id="8K7H"/>
  <dbReference type="PDBsum" id="8K7I"/>
  <dbReference type="PDBsum" id="8K7J"/>
  <dbReference type="PDBsum" id="8K7K"/>
  <dbReference type="PDBsum" id="8K7L"/>
  <dbReference type="PDBsum" id="9AVS"/>
  <dbReference type="AlphaFoldDB" id="P06280"/>
  <dbReference type="SMR" id="P06280"/>
  <dbReference type="BioGRID" id="108981">
    <property type="interactions" value="66"/>
  </dbReference>
  <dbReference type="IntAct" id="P06280">
    <property type="interactions" value="34"/>
  </dbReference>
  <dbReference type="STRING" id="9606.ENSP00000218516"/>
  <dbReference type="BindingDB" id="P06280"/>
  <dbReference type="ChEMBL" id="CHEMBL2524"/>
  <dbReference type="DrugBank" id="DB05018">
    <property type="generic name" value="Migalastat"/>
  </dbReference>
  <dbReference type="DrugCentral" id="P06280"/>
  <dbReference type="SwissLipids" id="SLP:000001380"/>
  <dbReference type="Allergome" id="9621">
    <property type="allergen name" value="Hom s alpha-Galactosidase"/>
  </dbReference>
  <dbReference type="CAZy" id="GH27">
    <property type="family name" value="Glycoside Hydrolase Family 27"/>
  </dbReference>
  <dbReference type="GlyConnect" id="1005">
    <property type="glycosylation" value="19 N-Linked glycans (3 sites)"/>
  </dbReference>
  <dbReference type="GlyCosmos" id="P06280">
    <property type="glycosylation" value="3 sites, 18 glycans"/>
  </dbReference>
  <dbReference type="GlyGen" id="P06280">
    <property type="glycosylation" value="4 sites, 43 N-linked glycans (3 sites), 1 O-linked glycan (1 site)"/>
  </dbReference>
  <dbReference type="iPTMnet" id="P06280"/>
  <dbReference type="PhosphoSitePlus" id="P06280"/>
  <dbReference type="BioMuta" id="GLA"/>
  <dbReference type="jPOST" id="P06280"/>
  <dbReference type="MassIVE" id="P06280"/>
  <dbReference type="PaxDb" id="9606-ENSP00000218516"/>
  <dbReference type="PeptideAtlas" id="P06280"/>
  <dbReference type="ProteomicsDB" id="51881"/>
  <dbReference type="Pumba" id="P06280"/>
  <dbReference type="Antibodypedia" id="377">
    <property type="antibodies" value="500 antibodies from 34 providers"/>
  </dbReference>
  <dbReference type="DNASU" id="2717"/>
  <dbReference type="Ensembl" id="ENST00000218516.4">
    <property type="protein sequence ID" value="ENSP00000218516.4"/>
    <property type="gene ID" value="ENSG00000102393.15"/>
  </dbReference>
  <dbReference type="GeneID" id="2717"/>
  <dbReference type="KEGG" id="hsa:2717"/>
  <dbReference type="MANE-Select" id="ENST00000218516.4">
    <property type="protein sequence ID" value="ENSP00000218516.4"/>
    <property type="RefSeq nucleotide sequence ID" value="NM_000169.3"/>
    <property type="RefSeq protein sequence ID" value="NP_000160.1"/>
  </dbReference>
  <dbReference type="AGR" id="HGNC:4296"/>
  <dbReference type="CTD" id="2717"/>
  <dbReference type="DisGeNET" id="2717"/>
  <dbReference type="GeneCards" id="GLA"/>
  <dbReference type="GeneReviews" id="GLA"/>
  <dbReference type="HGNC" id="HGNC:4296">
    <property type="gene designation" value="GLA"/>
  </dbReference>
  <dbReference type="HPA" id="ENSG00000102393">
    <property type="expression patterns" value="Low tissue specificity"/>
  </dbReference>
  <dbReference type="MalaCards" id="GLA"/>
  <dbReference type="MIM" id="300644">
    <property type="type" value="gene"/>
  </dbReference>
  <dbReference type="MIM" id="301500">
    <property type="type" value="phenotype"/>
  </dbReference>
  <dbReference type="neXtProt" id="NX_P06280"/>
  <dbReference type="OpenTargets" id="ENSG00000102393"/>
  <dbReference type="Orphanet" id="324">
    <property type="disease" value="Fabry disease"/>
  </dbReference>
  <dbReference type="PharmGKB" id="PA28707"/>
  <dbReference type="VEuPathDB" id="HostDB:ENSG00000102393"/>
  <dbReference type="eggNOG" id="KOG2366">
    <property type="taxonomic scope" value="Eukaryota"/>
  </dbReference>
  <dbReference type="GeneTree" id="ENSGT00390000008751"/>
  <dbReference type="HOGENOM" id="CLU_013093_0_0_1"/>
  <dbReference type="InParanoid" id="P06280"/>
  <dbReference type="OMA" id="MTPTMGW"/>
  <dbReference type="OrthoDB" id="5795902at2759"/>
  <dbReference type="PhylomeDB" id="P06280"/>
  <dbReference type="TreeFam" id="TF312909"/>
  <dbReference type="BioCyc" id="MetaCyc:HS02389-MONOMER"/>
  <dbReference type="BRENDA" id="3.2.1.22">
    <property type="organism ID" value="2681"/>
  </dbReference>
  <dbReference type="PathwayCommons" id="P06280"/>
  <dbReference type="Reactome" id="R-HSA-6798695">
    <property type="pathway name" value="Neutrophil degranulation"/>
  </dbReference>
  <dbReference type="Reactome" id="R-HSA-9840310">
    <property type="pathway name" value="Glycosphingolipid catabolism"/>
  </dbReference>
  <dbReference type="SABIO-RK" id="P06280"/>
  <dbReference type="SignaLink" id="P06280"/>
  <dbReference type="SIGNOR" id="P06280"/>
  <dbReference type="BioGRID-ORCS" id="2717">
    <property type="hits" value="7 hits in 784 CRISPR screens"/>
  </dbReference>
  <dbReference type="ChiTaRS" id="GLA">
    <property type="organism name" value="human"/>
  </dbReference>
  <dbReference type="EvolutionaryTrace" id="P06280"/>
  <dbReference type="GeneWiki" id="Alpha-galactosidase"/>
  <dbReference type="GenomeRNAi" id="2717"/>
  <dbReference type="Pharos" id="P06280">
    <property type="development level" value="Tclin"/>
  </dbReference>
  <dbReference type="PRO" id="PR:P06280"/>
  <dbReference type="Proteomes" id="UP000005640">
    <property type="component" value="Chromosome X"/>
  </dbReference>
  <dbReference type="RNAct" id="P06280">
    <property type="molecule type" value="protein"/>
  </dbReference>
  <dbReference type="Bgee" id="ENSG00000102393">
    <property type="expression patterns" value="Expressed in pancreatic ductal cell and 177 other cell types or tissues"/>
  </dbReference>
  <dbReference type="ExpressionAtlas" id="P06280">
    <property type="expression patterns" value="baseline and differential"/>
  </dbReference>
  <dbReference type="GO" id="GO:0035578">
    <property type="term" value="C:azurophil granule lumen"/>
    <property type="evidence" value="ECO:0000304"/>
    <property type="project" value="Reactome"/>
  </dbReference>
  <dbReference type="GO" id="GO:0005737">
    <property type="term" value="C:cytoplasm"/>
    <property type="evidence" value="ECO:0000315"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0070062">
    <property type="term" value="C:extracellular exosome"/>
    <property type="evidence" value="ECO:0007005"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0005576">
    <property type="term" value="C:extracellular region"/>
    <property type="evidence" value="ECO:0000314"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0005794">
    <property type="term" value="C:Golgi apparatus"/>
    <property type="evidence" value="ECO:0000315"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0043202">
    <property type="term" value="C:lysosomal lumen"/>
    <property type="evidence" value="ECO:0000304"/>
    <property type="project" value="Reactome"/>
  </dbReference>
  <dbReference type="GO" id="GO:0005764">
    <property type="term" value="C:lysosome"/>
    <property type="evidence" value="ECO:0000315"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0016020">
    <property type="term" value="C:membrane"/>
    <property type="evidence" value="ECO:0007669"/>
    <property type="project" value="GOC"/>
  </dbReference>
  <dbReference type="GO" id="GO:0004557">
    <property type="term" value="F:alpha-galactosidase activity"/>
    <property type="evidence" value="ECO:0000314"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0003824">
    <property type="term" value="F:catalytic activity"/>
    <property type="evidence" value="ECO:0000314"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0016936">
    <property type="term" value="F:galactoside binding"/>
    <property type="evidence" value="ECO:0007669"/>
    <property type="project" value="Ensembl"/>
  </dbReference>
  <dbReference type="GO" id="GO:0016787">
    <property type="term" value="F:hydrolase activity"/>
    <property type="evidence" value="ECO:0000304"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0042803">
    <property type="term" value="F:protein homodimerization activity"/>
    <property type="evidence" value="ECO:0000314"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0005102">
    <property type="term" value="F:signaling receptor binding"/>
    <property type="evidence" value="ECO:0000314"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0016139">
    <property type="term" value="P:glycoside catabolic process"/>
    <property type="evidence" value="ECO:0000318"/>
    <property type="project" value="GO_Central"/>
  </dbReference>
  <dbReference type="GO" id="GO:0046479">
    <property type="term" value="P:glycosphingolipid catabolic process"/>
    <property type="evidence" value="ECO:0000314"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0046477">
    <property type="term" value="P:glycosylceramide catabolic process"/>
    <property type="evidence" value="ECO:0000250"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0019915">
    <property type="term" value="P:lipid storage"/>
    <property type="evidence" value="ECO:0007669"/>
    <property type="project" value="Ensembl"/>
  </dbReference>
  <dbReference type="GO" id="GO:0045019">
    <property type="term" value="P:negative regulation of nitric oxide biosynthetic process"/>
    <property type="evidence" value="ECO:0000250"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0051001">
    <property type="term" value="P:negative regulation of nitric-oxide synthase activity"/>
    <property type="evidence" value="ECO:0000250"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0009311">
    <property type="term" value="P:oligosaccharide metabolic process"/>
    <property type="evidence" value="ECO:0000314"/>
    <property type="project" value="UniProtKB"/>
  </dbReference>
  <dbReference type="GO" id="GO:0070527">
    <property type="term" value="P:platelet aggregation"/>
    <property type="evidence" value="ECO:0007669"/>
    <property type="project" value="Ensembl"/>
  </dbReference>
  <dbReference type="GO" id="GO:0031133">
    <property type="term" value="P:regulation of axon diameter"/>
    <property type="evidence" value="ECO:0007669"/>
    <property type="project" value="Ensembl"/>
  </dbReference>
  <dbReference type="GO" id="GO:0090325">
    <property type="term" value="P:regulation of locomotion involved in locomotory behavior"/>
    <property type="evidence" value="ECO:0007669"/>
    <property type="project" value="Ensembl"/>
  </dbReference>
  <dbReference type="GO" id="GO:0030431">
    <property type="term" value="P:sleep"/>
    <property type="evidence" value="ECO:0007669"/>
    <property type="project" value="Ensembl"/>
  </dbReference>
  <dbReference type="CDD" id="cd14792">
    <property type="entry name" value="GH27"/>
    <property type="match status" value="1"/>
  </dbReference>
  <dbReference type="FunFam" id="3.20.20.70:FF:000070">
    <property type="entry name" value="Alpha-galactosidase"/>
    <property type="match status" value="1"/>
  </dbReference>
  <dbReference type="FunFam" id="2.60.40.1180:FF:000017">
    <property type="entry name" value="Alpha-galactosidase A"/>
    <property type="match status" value="1"/>
  </dbReference>
  <dbReference type="Gene3D" id="3.20.20.70">
    <property type="entry name" value="Aldolase class I"/>
    <property type="match status" value="1"/>
  </dbReference>
  <dbReference type="Gene3D" id="2.60.40.1180">
    <property type="entry name" value="Golgi alpha-mannosidase II"/>
    <property type="match status" value="1"/>
  </dbReference>
  <dbReference type="InterPro" id="IPR013785">
    <property type="entry name" value="Aldolase_TIM"/>
  </dbReference>
  <dbReference type="InterPro" id="IPR002241">
    <property type="entry name" value="Glyco_hydro_27"/>
  </dbReference>
  <dbReference type="InterPro" id="IPR000111">
    <property type="entry name" value="Glyco_hydro_27/36_CS"/>
  </dbReference>
  <dbReference type="InterPro" id="IPR013780">
    <property type="entry name" value="Glyco_hydro_b"/>
  </dbReference>
  <dbReference type="InterPro" id="IPR017853">
    <property type="entry name" value="Glycoside_hydrolase_SF"/>
  </dbReference>
  <dbReference type="InterPro" id="IPR035373">
    <property type="entry name" value="Melibiase/NAGA_C"/>
  </dbReference>
  <dbReference type="PANTHER" id="PTHR11452:SF14">
    <property type="entry name" value="ALPHA-GALACTOSIDASE A"/>
    <property type="match status" value="1"/>
  </dbReference>
  <dbReference type="PANTHER" id="PTHR11452">
    <property type="entry name" value="ALPHA-GALACTOSIDASE/ALPHA-N-ACETYLGALACTOSAMINIDASE"/>
    <property type="match status" value="1"/>
  </dbReference>
  <dbReference type="Pfam" id="PF16499">
    <property type="entry name" value="Melibiase_2"/>
    <property type="match status" value="1"/>
  </dbReference>
  <dbReference type="Pfam" id="PF17450">
    <property type="entry name" value="Melibiase_2_C"/>
    <property type="match status" value="1"/>
  </dbReference>
  <dbReference type="PRINTS" id="PR00740">
    <property type="entry name" value="GLHYDRLASE27"/>
  </dbReference>
  <dbReference type="SUPFAM" id="SSF51445">
    <property type="entry name" value="(Trans)glycosidases"/>
    <property type="match status" value="1"/>
  </dbReference>
  <dbReference type="SUPFAM" id="SSF51011">
    <property type="entry name" value="Glycosyl hydrolase domain"/>
    <property type="match status" value="1"/>
  </dbReference>
  <dbReference type="PROSITE" id="PS00512">
    <property type="entry name" value="ALPHA_GALACTOSIDASE"/>
    <property type="match status" value="1"/>
  </dbReference>
  <proteinExistence type="evidence at protein level"/>
  <keyword id="KW-0002">3D-structure</keyword>
  <keyword id="KW-0903">Direct protein sequencing</keyword>
  <keyword id="KW-0225">Disease variant</keyword>
  <keyword id="KW-1015">Disulfide bond</keyword>
  <keyword id="KW-0325">Glycoprotein</keyword>
  <keyword id="KW-0326">Glycosidase</keyword>
  <keyword id="KW-0378">Hydrolase</keyword>
  <keyword id="KW-0443">Lipid metabolism</keyword>
  <keyword id="KW-0458">Lysosome</keyword>
  <keyword id="KW-0582">Pharmaceutical</keyword>
  <keyword id="KW-1267">Proteomics identification</keyword>
  <keyword id="KW-1185">Reference proteome</keyword>
  <keyword id="KW-0691">RNA editing</keyword>
  <keyword id="KW-0732">Signal</keyword>
  <feature type="signal peptide">
    <location>
      <begin position="1"/>
      <end position="31"/>
    </location>
  </feature>
  <feature type="chain" id="PRO_0000001004" description="Alpha-galactosidase A">
    <location>
      <begin position="32"/>
      <end position="429"/>
    </location>
  </feature>
  <feature type="active site" description="Nucleophile" evidence="1">
    <location>
      <position position="170"/>
    </location>
  </feature>
  <feature type="active site" description="Proton donor" evidence="1">
    <location>
      <position position="231"/>
    </location>
  </feature>
  <feature type="binding site">
    <location>
      <begin position="203"/>
      <end position="207"/>
    </location>
    <ligand>
      <name>substrate</name>
    </ligand>
  </feature>
  <feature type="glycosylation site" description="N-linked (GlcNAc...) asparagine" evidence="14">
    <location>
      <position position="139"/>
    </location>
  </feature>
  <feature type="glycosylation site" description="N-linked (GlcNAc...) asparagine" evidence="14">
    <location>
      <position position="192"/>
    </location>
  </feature>
  <feature type="glycosylation site" description="N-linked (GlcNAc...) asparagine" evidence="14 19">
    <location>
      <position position="215"/>
    </location>
  </feature>
  <feature type="disulfide bond">
    <location>
      <begin position="52"/>
      <end position="94"/>
    </location>
  </feature>
  <feature type="disulfide bond">
    <location>
      <begin position="56"/>
      <end position="63"/>
    </location>
  </feature>
  <feature type="disulfide bond">
    <location>
      <begin position="142"/>
      <end position="172"/>
    </location>
  </feature>
  <feature type="disulfide bond">
    <location>
      <begin position="202"/>
      <end position="223"/>
    </location>
  </feature>
  <feature type="disulfide bond">
    <location>
      <begin position="378"/>
      <end position="382"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077365" description="Does not affect enzyme activity; dbSNP:rs150547672." evidence="24">
    <original>L</original>
    <variation>P</variation>
    <location>
      <position position="3"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077366" description="Does not affect enzyme activity; dbSNP:rs869312133." evidence="24">
    <original>L</original>
    <variation>V</variation>
    <location>
      <position position="3"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062550" description="In FD; has 4% of wild-type activity." evidence="20">
    <location>
      <begin position="12"/>
      <end position="14"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077367" description="In FD; loss of enzyme activity; dbSNP:rs869312134." evidence="24">
    <original>A</original>
    <variation>D</variation>
    <location>
      <position position="20"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012362" description="In FD; atypical; loss of enzyme activity; dbSNP:rs104894847." evidence="24 31 44">
    <original>A</original>
    <variation>P</variation>
    <location>
      <position position="20"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077368" description="In FD; loss of enzyme activity; dbSNP:rs869312135." evidence="24">
    <original>L</original>
    <variation>P</variation>
    <location>
      <position position="21"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012363" description="In FD; dbSNP:rs869312448." evidence="16 43">
    <original>A</original>
    <variation>V</variation>
    <location>
      <position position="31"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000431" description="In FD; dbSNP:rs1569306168." evidence="32">
    <original>L</original>
    <variation>P</variation>
    <location>
      <position position="32"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077369" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312136." evidence="24">
    <original>D</original>
    <variation>G</variation>
    <location>
      <position position="33"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000432" description="In FD; dbSNP:rs104894835." evidence="28 32 35">
    <original>N</original>
    <variation>S</variation>
    <location>
      <position position="34"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077370" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312137." evidence="24">
    <original>G</original>
    <variation>E</variation>
    <location>
      <position position="35"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000433" description="In FD." evidence="34">
    <original>G</original>
    <variation>R</variation>
    <location>
      <position position="35"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077371" description="In FD; loss of enzyme activity; dbSNP:rs869312138." evidence="24">
    <original>L</original>
    <variation>W</variation>
    <location>
      <position position="36"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012364" description="In FD; dbSNP:rs398123199." evidence="6">
    <original>P</original>
    <variation>L</variation>
    <location>
      <position position="40"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000434" description="In FD; loss of enzyme activity; dbSNP:rs104894831." evidence="21 24 44 47">
    <original>P</original>
    <variation>S</variation>
    <location>
      <position position="40"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062551" description="In FD; dbSNP:rs797044613." evidence="16">
    <original>M</original>
    <variation>L</variation>
    <location>
      <position position="42"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077372" description="In FD; loss of enzyme activity; dbSNP:rs398123201." evidence="24">
    <original>M</original>
    <variation>T</variation>
    <location>
      <position position="42"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012365" description="In FD; dbSNP:rs797044613." evidence="4 41">
    <original>M</original>
    <variation>V</variation>
    <location>
      <position position="42"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062552" description="In FD; dbSNP:rs886044906." evidence="16">
    <original>G</original>
    <variation>R</variation>
    <location>
      <position position="43"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012366" description="In FD." evidence="43">
    <original>LH</original>
    <variation>RS</variation>
    <location>
      <begin position="45"/>
      <end position="46"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077373" description="In FD; loss of enzyme activity." evidence="24">
    <original>L</original>
    <variation>P</variation>
    <location>
      <position position="45"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062553" description="In FD; has 36% of wild-type activity." evidence="20">
    <original>H</original>
    <variation>P</variation>
    <location>
      <position position="46"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012367" description="In FD; dbSNP:rs398123203." evidence="43">
    <original>H</original>
    <variation>R</variation>
    <location>
      <position position="46"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012368" description="In FD; dbSNP:rs1928582757." evidence="9">
    <original>H</original>
    <variation>Y</variation>
    <location>
      <position position="46"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012369" description="In FD; decreased alpha-galactosidase activity." evidence="9 26">
    <original>W</original>
    <variation>G</variation>
    <location>
      <position position="47"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_076478" description="In FD; decreased alpha-galactosidase activity." evidence="26">
    <original>W</original>
    <variation>R</variation>
    <location>
      <position position="47"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077374" description="In FD; loss of enzyme activity; dbSNP:rs869312254." evidence="24">
    <original>E</original>
    <variation>D</variation>
    <location>
      <position position="48"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000435" description="In FD." evidence="34">
    <original>R</original>
    <variation>L</variation>
    <location>
      <position position="49"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012370" description="In FD; dbSNP:rs398123205." evidence="9">
    <original>R</original>
    <variation>P</variation>
    <location>
      <position position="49"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012371" description="In FD." evidence="41">
    <original>R</original>
    <variation>S</variation>
    <location>
      <position position="49"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000436" description="In FD; dbSNP:rs1057521047." evidence="38 42">
    <original>C</original>
    <variation>R</variation>
    <location>
      <position position="52"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000437" description="In FD; dbSNP:rs869312256." evidence="29">
    <original>C</original>
    <variation>S</variation>
    <location>
      <position position="52"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000438" description="In FD; dbSNP:rs869312258." evidence="29">
    <original>C</original>
    <variation>F</variation>
    <location>
      <position position="56"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000439" description="In FD; dbSNP:rs104894836." evidence="28">
    <original>C</original>
    <variation>G</variation>
    <location>
      <position position="56"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012372" description="In FD; loss of enzyme activity; dbSNP:rs869312258." evidence="24 41">
    <original>C</original>
    <variation>Y</variation>
    <location>
      <position position="56"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000440" description="In FD." evidence="29">
    <original>E</original>
    <variation>K</variation>
    <location>
      <position position="59"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077375" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312262." evidence="24">
    <original>P</original>
    <variation>L</variation>
    <location>
      <position position="60"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077376" description="In FD; loss of enzyme activity; dbSNP:rs869312139." evidence="24">
    <original>I</original>
    <variation>F</variation>
    <location>
      <position position="64"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_032290" description="In FD; does not affect enzyme function; dbSNP:rs104894848." evidence="12 48">
    <original>S</original>
    <variation>T</variation>
    <location>
      <position position="65"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000441" description="In FD; has 52% of wild-type activity; dbSNP:rs104894833." evidence="13 20 30 44">
    <original>E</original>
    <variation>Q</variation>
    <location>
      <position position="66"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077377" description="Does not affect enzyme activity; dbSNP:rs781927744." evidence="24">
    <original>E</original>
    <variation>G</variation>
    <location>
      <position position="71"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000442" description="In FD; atypical." evidence="44 46">
    <original>M</original>
    <variation>V</variation>
    <location>
      <position position="72"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077378" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs781838005." evidence="24">
    <original>G</original>
    <variation>D</variation>
    <location>
      <position position="80"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000443" description="In FD; dbSNP:rs1569304898." evidence="32">
    <original>G</original>
    <variation>D</variation>
    <location>
      <position position="85"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012373" description="In FD." evidence="43">
    <original>Y</original>
    <variation>C</variation>
    <location>
      <position position="86"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077379" description="In FD; loss of enzyme activity; dbSNP:rs869312140." evidence="24">
    <original>Y</original>
    <variation>H</variation>
    <location>
      <position position="86"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012374" description="In FD." evidence="43">
    <original>L</original>
    <variation>P</variation>
    <location>
      <position position="89"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000444" description="In FD; dbSNP:rs1569304886." evidence="29">
    <original>L</original>
    <variation>R</variation>
    <location>
      <position position="89"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077380" description="In FD; loss of enzyme activity; dbSNP:rs869312141." evidence="24">
    <original>I</original>
    <variation>N</variation>
    <location>
      <position position="91"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012375" description="In FD; mild; loss of enzyme activity; dbSNP:rs869312141." evidence="24 43">
    <original>I</original>
    <variation>T</variation>
    <location>
      <position position="91"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012376" description="In FD; dbSNP:rs886041315." evidence="41">
    <original>D</original>
    <variation>H</variation>
    <location>
      <position position="92"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012377" description="In FD; dbSNP:rs886041315." evidence="43">
    <original>D</original>
    <variation>Y</variation>
    <location>
      <position position="92"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012378" description="In FD." evidence="41">
    <original>D</original>
    <variation>G</variation>
    <location>
      <position position="93"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062554" description="In FD; has no enzyme activity; dbSNP:rs869312270." evidence="16 20">
    <original>D</original>
    <variation>N</variation>
    <location>
      <position position="93"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012379" description="In FD; loss of enzyme activity; dbSNP:rs2147480697." evidence="9 24">
    <original>C</original>
    <variation>S</variation>
    <location>
      <position position="94"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012380" description="In FD; loss of enzyme activity; dbSNP:rs113173389." evidence="24 43">
    <original>C</original>
    <variation>Y</variation>
    <location>
      <position position="94"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012381" description="In FD." evidence="6 9">
    <original>W</original>
    <variation>S</variation>
    <location>
      <position position="95"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012382" description="In FD; dbSNP:rs1569304867." evidence="43">
    <original>A</original>
    <variation>V</variation>
    <location>
      <position position="97"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000445" description="In FD; dbSNP:rs869312273." evidence="29">
    <original>R</original>
    <variation>K</variation>
    <location>
      <position position="100"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012383" description="In FD." evidence="43">
    <original>R</original>
    <variation>T</variation>
    <location>
      <position position="100"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000446" description="In FD.">
    <location>
      <begin position="112"/>
      <end position="117"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000447" description="In FD; dbSNP:rs104894834." evidence="4 6 9 13 16 30 44">
    <original>R</original>
    <variation>C</variation>
    <location>
      <position position="112"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000448" description="In FD; mild; dbSNP:rs372966991." evidence="6 16 29">
    <original>R</original>
    <variation>H</variation>
    <location>
      <position position="112"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062555" description="In FD; dbSNP:rs104894834." evidence="16">
    <original>R</original>
    <variation>S</variation>
    <location>
      <position position="112"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077381" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312142." evidence="24">
    <original>F</original>
    <variation>I</variation>
    <location>
      <position position="113"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012384" description="In FD; mild; dbSNP:rs869312142." evidence="43">
    <original>F</original>
    <variation>L</variation>
    <location>
      <position position="113"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012385" description="In FD; dbSNP:rs2147480502." evidence="9">
    <original>F</original>
    <variation>S</variation>
    <location>
      <position position="113"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000449" description="In FD.">
    <original>LA</original>
    <variation>PT</variation>
    <location>
      <begin position="120"/>
      <end position="121"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062556" description="In FD; has 42% of wild-type activity." evidence="20">
    <original>L</original>
    <variation>V</variation>
    <location>
      <position position="120"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077382" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs782197638." evidence="24">
    <original>A</original>
    <variation>T</variation>
    <location>
      <position position="121"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000450" description="In FD." evidence="38">
    <original>G</original>
    <variation>E</variation>
    <location>
      <position position="128"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000451" description="In FD; dbSNP:rs869312298." evidence="29">
    <original>L</original>
    <variation>P</variation>
    <location>
      <position position="131"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012386" description="In FD; dbSNP:rs2147477791." evidence="16 43">
    <original>Y</original>
    <variation>S</variation>
    <location>
      <position position="134"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062557" description="In FD; dbSNP:rs1569304221." evidence="16">
    <original>A</original>
    <variation>V</variation>
    <location>
      <position position="135"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012387" description="In FD; dbSNP:rs1928326524." evidence="43">
    <original>G</original>
    <variation>R</variation>
    <location>
      <position position="138"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012388" description="In FD; dbSNP:rs886044845." evidence="4">
    <original>C</original>
    <variation>R</variation>
    <location>
      <position position="142"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000452" description="In FD." evidence="33 44">
    <original>C</original>
    <variation>Y</variation>
    <location>
      <position position="142"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000453" description="In FD; dbSNP:rs104894845." evidence="10 29">
    <original>A</original>
    <variation>P</variation>
    <location>
      <position position="143"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012389" description="In FD; uncertain significance; dbSNP:rs104894845." evidence="9 17 25 43">
    <original>A</original>
    <variation>T</variation>
    <location>
      <position position="143"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000454" description="In FD; dbSNP:rs782085638." evidence="29">
    <original>G</original>
    <variation>V</variation>
    <location>
      <position position="144"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000455" description="In FD; mild; dbSNP:rs104894837." evidence="29">
    <original>P</original>
    <variation>S</variation>
    <location>
      <position position="146"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012390" description="In FD; dbSNP:rs1555985829." evidence="6">
    <original>S</original>
    <variation>N</variation>
    <location>
      <position position="148"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012391" description="In FD; dbSNP:rs1569304190." evidence="4 43">
    <original>S</original>
    <variation>R</variation>
    <location>
      <position position="148"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077383" description="Does not affect enzyme activity; dbSNP:rs869312143." evidence="24">
    <original>I</original>
    <variation>T</variation>
    <location>
      <position position="154"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000456" description="In FD; dbSNP:rs28935195." evidence="32">
    <original>A</original>
    <variation>T</variation>
    <location>
      <position position="156"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000457" description="In FD; dbSNP:rs869312307." evidence="30 33 44">
    <original>A</original>
    <variation>V</variation>
    <location>
      <position position="156"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012392" description="In FD; dbSNP:rs869312311." evidence="42">
    <original>W</original>
    <variation>C</variation>
    <location>
      <position position="162"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000458" description="In FD; dbSNP:rs28935196." evidence="28">
    <original>W</original>
    <variation>R</variation>
    <location>
      <position position="162"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012393" description="In FD." evidence="43">
    <original>G</original>
    <variation>V</variation>
    <location>
      <position position="163"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077384" description="In FD; loss of enzyme activity." evidence="24">
    <original>V</original>
    <variation>G</variation>
    <location>
      <position position="164"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077385" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312144." evidence="24">
    <original>V</original>
    <variation>L</variation>
    <location>
      <position position="164"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000459" description="In FD." evidence="4 34">
    <original>D</original>
    <variation>V</variation>
    <location>
      <position position="165"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000460" description="In FD." evidence="30 33 44">
    <original>L</original>
    <variation>V</variation>
    <location>
      <position position="166"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077386" description="In FD; loss of enzyme activity." evidence="24">
    <original>L</original>
    <variation>Q</variation>
    <location>
      <position position="167"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012394" description="In FD." evidence="43">
    <original>D</original>
    <variation>V</variation>
    <location>
      <position position="170"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062558" description="In FD." evidence="16">
    <original>G</original>
    <variation>D</variation>
    <location>
      <position position="171"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012395" description="In FD." evidence="6">
    <original>C</original>
    <variation>R</variation>
    <location>
      <position position="172"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000461" description="In FD; dbSNP:rs869312318." evidence="29">
    <original>C</original>
    <variation>Y</variation>
    <location>
      <position position="172"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077387" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312145." evidence="24">
    <original>L</original>
    <variation>F</variation>
    <location>
      <position position="180"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012396" description="In FD; dbSNP:rs869312320." evidence="4">
    <original>G</original>
    <variation>D</variation>
    <location>
      <position position="183"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077388" description="In FD; loss of enzyme activity; dbSNP:rs869312146." evidence="24">
    <original>M</original>
    <variation>I</variation>
    <location>
      <position position="187"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012397" description="In FD; decreased enzyme activity; dbSNP:rs869312340." evidence="6 24">
    <original>M</original>
    <variation>V</variation>
    <location>
      <position position="187"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077389" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312147." evidence="24">
    <original>R</original>
    <variation>S</variation>
    <location>
      <position position="196"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077390" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs727503950." evidence="24">
    <original>I</original>
    <variation>T</variation>
    <location>
      <position position="198"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062559" description="In FD." evidence="16">
    <original>S</original>
    <variation>F</variation>
    <location>
      <position position="201"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000462" description="In FD; dbSNP:rs104894838." evidence="3">
    <original>C</original>
    <variation>W</variation>
    <location>
      <position position="202"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012398" description="In FD; loss of enzyme activity; dbSNP:rs869312344." evidence="24 43">
    <original>C</original>
    <variation>Y</variation>
    <location>
      <position position="202"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077391" description="In FD; loss of enzyme activity; dbSNP:rs869312148." evidence="24">
    <original>W</original>
    <variation>R</variation>
    <location>
      <position position="204"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012399" description="In FD." evidence="43">
    <location>
      <begin position="205"/>
      <end position="207"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000463" description="In FD; dbSNP:rs397515870." evidence="38 41">
    <original>P</original>
    <variation>T</variation>
    <location>
      <position position="205"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077392" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312149." evidence="24">
    <original>K</original>
    <variation>R</variation>
    <location>
      <position position="213"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077393" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312150." evidence="24">
    <original>P</original>
    <variation>L</variation>
    <location>
      <position position="214"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000464" description="In FD; mild; dbSNP:rs28935197." evidence="4 9 16 35 47">
    <original>N</original>
    <variation>S</variation>
    <location>
      <position position="215"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012400" description="In FD; dbSNP:rs1928199003." evidence="43">
    <original>Y</original>
    <variation>D</variation>
    <location>
      <position position="216"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077394" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312151." evidence="24">
    <original>I</original>
    <variation>M</variation>
    <location>
      <position position="219"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000465" description="In FD." evidence="29">
    <original>I</original>
    <variation>N</variation>
    <location>
      <position position="219"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062560" description="In FD; has 46% of wild-type activity; dbSNP:rs2147473404." evidence="20">
    <original>I</original>
    <variation>T</variation>
    <location>
      <position position="219"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012401" description="In FD; dbSNP:rs869312381." evidence="3">
    <original>C</original>
    <variation>G</variation>
    <location>
      <position position="223"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000466" description="In FD; dbSNP:rs1555985175." evidence="3 47">
    <original>N</original>
    <variation>D</variation>
    <location>
      <position position="224"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012402" description="In FD; dbSNP:rs869312383." evidence="6">
    <original>N</original>
    <variation>S</variation>
    <location>
      <position position="224"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012403" description="In FD; dbSNP:rs1928196393." evidence="6">
    <original>W</original>
    <variation>R</variation>
    <location>
      <position position="226"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077395" description="In FD; loss of enzyme activity; dbSNP:rs104894840." evidence="24">
    <original>R</original>
    <variation>P</variation>
    <location>
      <position position="227"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000467" description="In FD; dbSNP:rs104894840." evidence="6 28">
    <original>R</original>
    <variation>Q</variation>
    <location>
      <position position="227"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077396" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312152." evidence="24">
    <original>N</original>
    <variation>S</variation>
    <location>
      <position position="228"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012404" description="In FD; dbSNP:rs1928195468." evidence="6">
    <original>A</original>
    <variation>T</variation>
    <location>
      <position position="230"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000468" description="In FD." evidence="40">
    <original>D</original>
    <variation>N</variation>
    <location>
      <position position="231"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062561" description="In FD." evidence="16">
    <original>D</original>
    <variation>E</variation>
    <location>
      <position position="234"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012405" description="In FD; dbSNP:rs797044746." evidence="4">
    <original>S</original>
    <variation>C</variation>
    <location>
      <position position="235"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012406" description="In FD; dbSNP:rs869312386." evidence="41">
    <original>W</original>
    <variation>C</variation>
    <location>
      <position position="236"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012407" description="In FD." evidence="4">
    <original>W</original>
    <variation>L</variation>
    <location>
      <position position="236"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012408" description="In FD." evidence="44">
    <original>I</original>
    <variation>N</variation>
    <location>
      <position position="242"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077397" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs397515873." evidence="24">
    <original>I</original>
    <variation>V</variation>
    <location>
      <position position="242"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077398" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs397515874." evidence="24">
    <original>L</original>
    <variation>F</variation>
    <location>
      <position position="243"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012409" description="In FD; dbSNP:rs727503948." evidence="4">
    <original>D</original>
    <variation>H</variation>
    <location>
      <position position="244"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000469" description="In FD; dbSNP:rs727503948." evidence="29">
    <original>D</original>
    <variation>N</variation>
    <location>
      <position position="244"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077399" description="In FD; loss of enzyme activity; dbSNP:rs869312393." evidence="24">
    <original>S</original>
    <variation>P</variation>
    <location>
      <position position="247"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000470" description="In FD.">
    <original>S</original>
    <variation>SWTS</variation>
    <location>
      <position position="247"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077400" description="In FD; uncertain significance; decreased enzyme activity." evidence="24">
    <original>N</original>
    <variation>K</variation>
    <location>
      <position position="249"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077401" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs727505292." evidence="24">
    <original>I</original>
    <variation>T</variation>
    <location>
      <position position="253"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077402" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312153." evidence="24">
    <original>V</original>
    <variation>A</variation>
    <location>
      <position position="254"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012410" description="In FD." evidence="9">
    <original>G</original>
    <variation>R</variation>
    <location>
      <position position="258"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012411" description="In FD; dbSNP:rs869312399." evidence="4">
    <original>P</original>
    <variation>L</variation>
    <location>
      <position position="259"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012412" description="In FD; decreased enzyme activity; dbSNP:rs869312399." evidence="9 24">
    <original>P</original>
    <variation>R</variation>
    <location>
      <position position="259"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012413" description="In FD." evidence="30 44">
    <original>G</original>
    <variation>A</variation>
    <location>
      <position position="260"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012414" description="In FD; dbSNP:rs869312401." evidence="16 44">
    <original>G</original>
    <variation>D</variation>
    <location>
      <position position="261"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077403" description="In FD; loss of enzyme activity; dbSNP:rs869312154." evidence="24">
    <original>W</original>
    <variation>R</variation>
    <location>
      <position position="262"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012415" description="In FD; dbSNP:rs869312404." evidence="43">
    <original>N</original>
    <variation>S</variation>
    <location>
      <position position="263"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000471" description="In FD; dbSNP:rs28935486." evidence="16 28">
    <original>D</original>
    <variation>V</variation>
    <location>
      <position position="264"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062562" description="In FD; dbSNP:rs190347120." evidence="16">
    <original>D</original>
    <variation>Y</variation>
    <location>
      <position position="264"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012416" description="In FD." evidence="42">
    <original>P</original>
    <variation>R</variation>
    <location>
      <position position="265"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_032291" description="In FD." evidence="6">
    <original>D</original>
    <variation>H</variation>
    <location>
      <position position="266"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012418" description="In FD; dbSNP:rs869312407." evidence="7">
    <original>D</original>
    <variation>N</variation>
    <location>
      <position position="266"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000472" description="In FD; dbSNP:rs28935487." evidence="28">
    <original>D</original>
    <variation>V</variation>
    <location>
      <position position="266"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012419" description="In FD; dbSNP:rs730880451." evidence="4 9">
    <original>M</original>
    <variation>I</variation>
    <location>
      <position position="267"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000473" description="In FD; dbSNP:rs28935488." evidence="35">
    <original>V</original>
    <variation>A</variation>
    <location>
      <position position="269"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077404" description="In FD; loss of enzyme activity; dbSNP:rs28935488." evidence="24">
    <original>V</original>
    <variation>G</variation>
    <location>
      <position position="269"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000474" description="In FD." evidence="29">
    <original>N</original>
    <variation>K</variation>
    <location>
      <position position="272"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_032292" description="In FD; dbSNP:rs28935495." evidence="15">
    <original>N</original>
    <variation>S</variation>
    <location>
      <position position="272"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062563" description="In FD; loss of enzyme activity; dbSNP:rs869312432." evidence="16 24">
    <original>S</original>
    <variation>G</variation>
    <location>
      <position position="276"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000475" description="In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485." evidence="5 13 30 44">
    <original>Q</original>
    <variation>E</variation>
    <location>
      <position position="279"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012420" description="In FD." evidence="9">
    <original>Q</original>
    <variation>H</variation>
    <location>
      <position position="279"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012421" description="In FD." evidence="9">
    <original>Q</original>
    <variation>H</variation>
    <location>
      <position position="280"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000476" description="In FD; dbSNP:rs1928171557." evidence="38">
    <original>M</original>
    <variation>T</variation>
    <location>
      <position position="284"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062564" description="In FD." evidence="16">
    <original>A</original>
    <variation>P</variation>
    <location>
      <position position="285"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012422" description="In FD; dbSNP:rs104894839." evidence="43">
    <original>W</original>
    <variation>C</variation>
    <location>
      <position position="287"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012423" description="In FD." evidence="41">
    <original>W</original>
    <variation>G</variation>
    <location>
      <position position="287"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000477" description="In FD; dbSNP:rs869312437." evidence="29">
    <original>A</original>
    <variation>D</variation>
    <location>
      <position position="288"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012424" description="In FD; dbSNP:rs140329381." evidence="4">
    <original>I</original>
    <variation>F</variation>
    <location>
      <position position="289"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077405" description="Decreased enzyme activity; dbSNP:rs140329381." evidence="24">
    <original>I</original>
    <variation>V</variation>
    <location>
      <position position="289"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012425" description="In FD; atypical; dbSNP:rs104894846." evidence="30 31 44">
    <original>M</original>
    <variation>I</variation>
    <location>
      <position position="296"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000478" description="In FD; mild; dbSNP:rs104894830." evidence="18">
    <original>M</original>
    <variation>V</variation>
    <location>
      <position position="296"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000479" description="In FD; dbSNP:rs28935489." evidence="28">
    <original>S</original>
    <variation>F</variation>
    <location>
      <position position="297"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012426" description="In FD." evidence="9 41">
    <original>N</original>
    <variation>H</variation>
    <location>
      <position position="298"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000480" description="In FD; dbSNP:rs869312444." evidence="38">
    <original>N</original>
    <variation>K</variation>
    <location>
      <position position="298"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012427" description="In FD; dbSNP:rs1569302985." evidence="43">
    <original>N</original>
    <variation>S</variation>
    <location>
      <position position="298"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062565" description="In FD; dbSNP:rs2147472132." evidence="16">
    <original>L</original>
    <variation>F</variation>
    <location>
      <position position="300"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000481" description="In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828." evidence="3 5 6 13 22 30 32 36 44">
    <original>R</original>
    <variation>Q</variation>
    <location>
      <position position="301"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077406" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312155." evidence="24">
    <original>A</original>
    <variation>V</variation>
    <location>
      <position position="309"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077407" description="Does not affect enzyme activity; dbSNP:rs28935490." evidence="24">
    <original>D</original>
    <variation>N</variation>
    <location>
      <position position="313"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000482" description="In FD; dbSNP:rs28935490." evidence="9 28 47">
    <original>D</original>
    <variation>Y</variation>
    <location>
      <position position="313"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077408" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312156." evidence="24">
    <original>D</original>
    <variation>N</variation>
    <location>
      <position position="315"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012429" description="In FD." evidence="42">
    <location>
      <begin position="316"/>
      <end position="322"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077409" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312157." evidence="24">
    <original>V</original>
    <variation>A</variation>
    <location>
      <position position="316"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000483" description="In FD." evidence="34">
    <original>V</original>
    <variation>E</variation>
    <location>
      <position position="316"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077410" description="In FD; loss of enzyme activity; dbSNP:rs869312158." evidence="24">
    <original>I</original>
    <variation>S</variation>
    <location>
      <position position="317"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012430" description="In FD." evidence="30 44">
    <original>N</original>
    <variation>K</variation>
    <location>
      <position position="320"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012431" description="In FD; loss of enzyme activity." evidence="6 24">
    <original>N</original>
    <variation>Y</variation>
    <location>
      <position position="320"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012432" description="In FD; dbSNP:rs730880439." evidence="4">
    <original>Q</original>
    <variation>E</variation>
    <location>
      <position position="321"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077411" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312159." evidence="24">
    <original>P</original>
    <variation>R</variation>
    <location>
      <position position="323"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000484" description="In FD; dbSNP:rs28935491." evidence="3 35">
    <original>Q</original>
    <variation>K</variation>
    <location>
      <position position="327"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077412" description="In FD; loss of enzyme activity; dbSNP:rs869312160." evidence="24">
    <original>Q</original>
    <variation>L</variation>
    <location>
      <position position="327"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077413" description="In FD; loss of enzyme activity; dbSNP:rs869312160." evidence="24">
    <original>Q</original>
    <variation>R</variation>
    <location>
      <position position="327"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000486" description="In FD; dbSNP:rs28935492." evidence="16 28">
    <original>G</original>
    <variation>A</variation>
    <location>
      <position position="328"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000485" description="In FD; loss of enzyme activity; dbSNP:rs104894832." evidence="13 24 30 44">
    <original>G</original>
    <variation>R</variation>
    <location>
      <position position="328"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062566" description="In FD; dbSNP:rs28935492." evidence="16">
    <original>G</original>
    <variation>V</variation>
    <location>
      <position position="328"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077414" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312161." evidence="24">
    <original>Q</original>
    <variation>R</variation>
    <location>
      <position position="330"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062567" description="In FD." evidence="16">
    <original>E</original>
    <variation>K</variation>
    <location>
      <position position="338"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012433" description="In FD; dbSNP:rs1555984869." evidence="41">
    <original>W</original>
    <variation>R</variation>
    <location>
      <position position="340"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012434" description="In FD; dbSNP:rs869312214." evidence="2">
    <original>E</original>
    <variation>K</variation>
    <location>
      <position position="341"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077415" description="In FD; loss of enzyme activity." evidence="24">
    <original>R</original>
    <variation>P</variation>
    <location>
      <position position="342"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000487" description="In FD; severe; dbSNP:rs28935493." evidence="29">
    <original>R</original>
    <variation>Q</variation>
    <location>
      <position position="342"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077416" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312162." evidence="24">
    <original>A</original>
    <variation>G</variation>
    <location>
      <position position="352"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077417" description="In FD; loss of enzyme activity; dbSNP:rs869312163." evidence="24">
    <original>R</original>
    <variation>P</variation>
    <location>
      <position position="356"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062568" description="In FD; has 15% of wild-type activity; dbSNP:rs869312163." evidence="20">
    <original>R</original>
    <variation>Q</variation>
    <location>
      <position position="356"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000488" description="In FD; severe; dbSNP:rs104894827." evidence="23">
    <original>R</original>
    <variation>W</variation>
    <location>
      <position position="356"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062569" description="In FD; dbSNP:rs869312224." evidence="16">
    <original>E</original>
    <variation>A</variation>
    <location>
      <position position="358"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000489" description="In FD; loss of enzyme activity; dbSNP:rs797044774." evidence="24 45">
    <original>E</original>
    <variation>K</variation>
    <location>
      <position position="358"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000490" description="In FD; dbSNP:rs730880453." evidence="4 16 38 44">
    <location>
      <position position="358"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062570" description="In FD; has 6% of wild-type activity; dbSNP:rs782598150." evidence="20">
    <original>G</original>
    <variation>C</variation>
    <location>
      <position position="360"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077418" description="In FD; loss of enzyme activity." evidence="24">
    <original>G</original>
    <variation>S</variation>
    <location>
      <position position="360"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000491" description="In FD; severe; dbSNP:rs28935494." evidence="35">
    <original>G</original>
    <variation>R</variation>
    <location>
      <position position="361"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012435" description="In FD; dbSNP:rs111422676." evidence="9">
    <original>R</original>
    <variation>H</variation>
    <location>
      <position position="363"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012436" description="In FD; dbSNP:rs869312227." evidence="8">
    <original>G</original>
    <variation>D</variation>
    <location>
      <position position="373"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012437" description="In FD; dbSNP:rs727504348." evidence="30 44">
    <original>G</original>
    <variation>S</variation>
    <location>
      <position position="373"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077419" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312164." evidence="24">
    <original>G</original>
    <variation>A</variation>
    <location>
      <position position="375"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012438" description="In FD." evidence="9">
    <original>A</original>
    <variation>D</variation>
    <location>
      <position position="377"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012439" description="In FD." evidence="4">
    <original>C</original>
    <variation>Y</variation>
    <location>
      <position position="378"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000492" description="In FD; severe; with facial telangiectasias; dbSNP:rs1057519609." evidence="39">
    <location>
      <position position="383"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077420" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs869312165." evidence="24">
    <original>R</original>
    <variation>S</variation>
    <location>
      <position position="392"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000493" description="In RNA edited version.">
    <original>F</original>
    <variation>Y</variation>
    <location>
      <position position="396"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_077421" description="In FD; uncertain significance; decreased enzyme activity; dbSNP:rs782449839." evidence="24">
    <original>W</original>
    <variation>S</variation>
    <location>
      <position position="399"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_000494" description="In FD; mild; loss of enzyme activity." evidence="16 24 28 43">
    <location>
      <position position="404"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012440" description="In FD; dbSNP:rs878853698." evidence="9">
    <original>P</original>
    <variation>A</variation>
    <location>
      <position position="409"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_012441" description="In FD." evidence="9">
    <original>P</original>
    <variation>T</variation>
    <location>
      <position position="409"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_032293" description="In FD; mild; dbSNP:rs104894852." evidence="11">
    <original>T</original>
    <variation>A</variation>
    <location>
      <position position="410"/>
    </location>
  </feature>
  <feature type="sequence variant" id="VAR_062571" description="In FD; dbSNP:rs869312246." evidence="16">
    <original>L</original>
    <variation>S</variation>
    <location>
      <position position="414"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="42"/>
      <end position="46"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="47"/>
      <end position="50"/>
    </location>
  </feature>
  <feature type="turn" evidence="55">
    <location>
      <begin position="56"/>
      <end position="58"/>
    </location>
  </feature>
  <feature type="turn" evidence="55">
    <location>
      <begin position="60"/>
      <end position="62"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="63"/>
      <end position="65"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="66"/>
      <end position="78"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="81"/>
      <end position="84"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="88"/>
      <end position="90"/>
    </location>
  </feature>
  <feature type="strand" evidence="54">
    <location>
      <begin position="102"/>
      <end position="104"/>
    </location>
  </feature>
  <feature type="turn" evidence="55">
    <location>
      <begin position="110"/>
      <end position="112"/>
    </location>
  </feature>
  <feature type="strand" evidence="53">
    <location>
      <begin position="113"/>
      <end position="115"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="116"/>
      <end position="126"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="130"/>
      <end position="140"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="144"/>
      <end position="146"/>
    </location>
  </feature>
  <feature type="turn" evidence="57">
    <location>
      <begin position="149"/>
      <end position="151"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="152"/>
      <end position="162"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="166"/>
      <end position="170"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="177"/>
      <end position="193"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="199"/>
      <end position="202"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="205"/>
      <end position="208"/>
    </location>
  </feature>
  <feature type="turn" evidence="55">
    <location>
      <begin position="209"/>
      <end position="211"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="216"/>
      <end position="222"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="224"/>
      <end position="227"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="236"/>
      <end position="248"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="250"/>
      <end position="253"/>
    </location>
  </feature>
  <feature type="turn" evidence="55">
    <location>
      <begin position="254"/>
      <end position="256"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="261"/>
      <end position="264"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="272"/>
      <end position="274"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="277"/>
      <end position="289"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="294"/>
      <end position="296"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="305"/>
      <end position="311"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="314"/>
      <end position="320"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="329"/>
      <end position="334"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="337"/>
      <end position="343"/>
    </location>
  </feature>
  <feature type="turn" evidence="56">
    <location>
      <begin position="345"/>
      <end position="347"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="349"/>
      <end position="355"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="359"/>
      <end position="361"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="363"/>
      <end position="368"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="369"/>
      <end position="371"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="373"/>
      <end position="375"/>
    </location>
  </feature>
  <feature type="turn" evidence="55">
    <location>
      <begin position="376"/>
      <end position="378"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="379"/>
      <end position="390"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="392"/>
      <end position="398"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="402"/>
      <end position="407"/>
    </location>
  </feature>
  <feature type="strand" evidence="55">
    <location>
      <begin position="412"/>
      <end position="419"/>
    </location>
  </feature>
  <feature type="helix" evidence="55">
    <location>
      <begin position="420"/>
      <end position="424"/>
    </location>
  </feature>
  <evidence type="ECO:0000250" key="1"/>
  <evidence type="ECO:0000269" key="2">
    <source>
      <dbReference type="PubMed" id="10090526"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="3">
    <source>
      <dbReference type="PubMed" id="10208848"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="4">
    <source>
      <dbReference type="PubMed" id="10666480"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="5">
    <source>
      <dbReference type="PubMed" id="10838196"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="6">
    <source>
      <dbReference type="PubMed" id="10916280"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="7">
    <source>
      <dbReference type="PubMed" id="11076046"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="8">
    <source>
      <dbReference type="PubMed" id="11295840"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="9">
    <source>
      <dbReference type="PubMed" id="11668641"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="10">
    <source>
      <dbReference type="PubMed" id="11889412"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="11">
    <source>
      <dbReference type="PubMed" id="12694230"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="12">
    <source>
      <dbReference type="PubMed" id="12786754"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="13">
    <source>
      <dbReference type="PubMed" id="1315715"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="14">
    <source>
      <dbReference type="PubMed" id="15003450"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="15">
    <source>
      <dbReference type="PubMed" id="15162124"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="16">
    <source>
      <dbReference type="PubMed" id="15712228"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="17">
    <source>
      <dbReference type="PubMed" id="16533976"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="18">
    <source>
      <dbReference type="PubMed" id="1846223"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="19">
    <source>
      <dbReference type="PubMed" id="19159218"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="20">
    <source>
      <dbReference type="PubMed" id="19621417"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="21">
    <source>
      <dbReference type="PubMed" id="2152885"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="22">
    <source>
      <dbReference type="PubMed" id="2171331"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="23">
    <source>
      <dbReference type="PubMed" id="2539398"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="24">
    <source>
      <dbReference type="PubMed" id="26415523"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="25">
    <source>
      <dbReference type="PubMed" id="27142856"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="26">
    <source>
      <dbReference type="PubMed" id="27211852"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="27">
    <source>
      <dbReference type="PubMed" id="7503918"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="28">
    <source>
      <dbReference type="PubMed" id="7504405"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="29">
    <source>
      <dbReference type="PubMed" id="7531540"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="30">
    <source>
      <dbReference type="PubMed" id="7575533"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="31">
    <source>
      <dbReference type="PubMed" id="7596372"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="32">
    <source>
      <dbReference type="PubMed" id="7599642"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="33">
    <source>
      <dbReference type="PubMed" id="7759078"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="34">
    <source>
      <dbReference type="PubMed" id="8069316"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="35">
    <source>
      <dbReference type="PubMed" id="8395937"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="36">
    <source>
      <dbReference type="PubMed" id="8738659"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="37">
    <source>
      <dbReference type="PubMed" id="8804427"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="38">
    <source>
      <dbReference type="PubMed" id="8807334"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="39">
    <source>
      <dbReference type="PubMed" id="8834244"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="40">
    <source>
      <dbReference type="PubMed" id="8863162"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="41">
    <source>
      <dbReference type="PubMed" id="8875188"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="42">
    <source>
      <dbReference type="PubMed" id="8931708"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="43">
    <source>
      <dbReference type="PubMed" id="9100224"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="44">
    <source>
      <dbReference type="PubMed" id="9105656"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="45">
    <source>
      <dbReference type="PubMed" id="9452068"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="46">
    <source>
      <dbReference type="PubMed" id="9452090"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="47">
    <source>
      <dbReference type="PubMed" id="9452111"/>
    </source>
  </evidence>
  <evidence type="ECO:0000269" key="48">
    <source>
      <dbReference type="PubMed" id="9554750"/>
    </source>
  </evidence>
  <evidence type="ECO:0000305" key="49"/>
  <evidence type="ECO:0000305" key="50">
    <source>
      <dbReference type="PubMed" id="10838196"/>
    </source>
  </evidence>
  <evidence type="ECO:0000305" key="51">
    <source>
      <dbReference type="PubMed" id="8804427"/>
    </source>
  </evidence>
  <evidence type="ECO:0000312" key="52">
    <source>
      <dbReference type="HGNC" id="HGNC:4296"/>
    </source>
  </evidence>
  <evidence type="ECO:0007829" key="53">
    <source>
      <dbReference type="PDB" id="1R47"/>
    </source>
  </evidence>
  <evidence type="ECO:0007829" key="54">
    <source>
      <dbReference type="PDB" id="3GXT"/>
    </source>
  </evidence>
  <evidence type="ECO:0007829" key="55">
    <source>
      <dbReference type="PDB" id="3HG3"/>
    </source>
  </evidence>
  <evidence type="ECO:0007829" key="56">
    <source>
      <dbReference type="PDB" id="6IBK"/>
    </source>
  </evidence>
  <evidence type="ECO:0007829" key="57">
    <source>
      <dbReference type="PDB" id="6IBT"/>
    </source>
  </evidence>
  <sequence length="429" mass="48767" checksum="613F8BF21B107D7B" modified="1988-08-01" version="1" precursor="true">MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL</sequence>
</entry>
<copyright>
Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms Distributed under the Creative Commons Attribution (CC BY 4.0) License
</copyright>
</uniprot>