{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P51688","secondaryAccessions":["A8K5E2"],"uniProtkbId":"SPHM_HUMAN","entryAudit":{"firstPublicDate":"1996-10-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"1996-10-01","entryVersion":206,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"N-sulphoglucosamine sulphohydrolase"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146460"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7493035"}],"value":"3.10.1.1"}]},"alternativeNames":[{"fullName":{"value":"Sulfoglucosamine sulfamidase"}},{"fullName":{"value":"Sulphamidase"}}],"flag":"Precursor"},"genes":[{"geneName":{"value":"SGSH"},"synonyms":[{"value":"HSS"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146460"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7493035"}],"value":"Catalyzes a step in lysosomal heparan sulfate degradation"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"N-sulfo-D-glucosamine + H2O = D-glucosamine + sulfate","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:17881"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:16189"},{"database":"ChEBI","id":"CHEBI:57868"},{"database":"ChEBI","id":"CHEBI:58723"}],"ecNumber":"3.10.1.1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146460"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7493035"}]}},{"commentType":"COFACTOR","cofactors":[{"name":"Ca(2+)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"}],"cofactorCrossReference":{"database":"ChEBI","id":"CHEBI:29108"}}],"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"}],"value":"Binds 1 Ca(2+) ion per subunit."}]}},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P51688","intActId":"EBI-2907521"},"interactantTwo":{"uniProtKBAccession":"Q8NBK3","geneName":"SUMF1","intActId":"EBI-2853497"},"numberOfExperiments":4,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146460"}],"value":"Lysosome","id":"SL-0158"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"}],"value":"The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Mucopolysaccharidosis 3A","diseaseAccession":"DI-00774","acronym":"MPS3A","description":"A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival.","diseaseCrossReference":{"database":"MIM","id":"252900"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11793481"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12000360"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12702166"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146460"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15637719"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15902564"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16311287"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17128482"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18407553"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21671382"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28101780"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9158154"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9285796"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9401012"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9744479"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the sulfatase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":20,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7493035"}]},{"type":"Chain","location":{"start":{"value":21,"modifier":"EXACT"},"end":{"value":502,"modifier":"EXACT"}},"description":"N-sulphoglucosamine sulphohydrolase","featureId":"PRO_0000033433"},{"type":"Active site","location":{"start":{"value":70,"modifier":"EXACT"},"end":{"value":70,"modifier":"EXACT"}},"description":"Nucleophile","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"}]},{"type":"Binding site","location":{"start":{"value":31,"modifier":"EXACT"},"end":{"value":31,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MHX"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MIV"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108"}},{"type":"Binding site","location":{"start":{"value":32,"modifier":"EXACT"},"end":{"value":32,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MHX"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MIV"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108"}},{"type":"Binding site","location":{"start":{"value":70,"modifier":"EXACT"},"end":{"value":70,"modifier":"EXACT"}},"description":"via 3-oxoalanine","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MHX"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MIV"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108"}},{"type":"Binding site","location":{"start":{"value":273,"modifier":"EXACT"},"end":{"value":273,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MHX"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MIV"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108"}},{"type":"Binding site","location":{"start":{"value":274,"modifier":"EXACT"},"end":{"value":274,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MHX"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MIV"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108"}},{"type":"Modified residue","location":{"start":{"value":70,"modifier":"EXACT"},"end":{"value":70,"modifier":"EXACT"}},"description":"3-oxoalanine (Cys)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"}]},{"type":"Glycosylation","location":{"start":{"value":41,"modifier":"EXACT"},"end":{"value":41,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12754519"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19159218"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MHX"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MIV"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":142,"modifier":"EXACT"},"end":{"value":142,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":151,"modifier":"EXACT"},"end":{"value":151,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MHX"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MIV"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":264,"modifier":"EXACT"},"end":{"value":264,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12754519"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MHX"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MIV"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":413,"modifier":"EXACT"},"end":{"value":413,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19159218"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MHX"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MIV"}],"featureId":""},{"type":"Disulfide bond","location":{"start":{"value":183,"modifier":"EXACT"},"end":{"value":194,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MHX"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MIV"}]},{"type":"Disulfide bond","location":{"start":{"value":481,"modifier":"EXACT"},"end":{"value":495,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24816101"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MHX"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4MIV"}]},{"type":"Natural variant","location":{"start":{"value":32,"modifier":"EXACT"},"end":{"value":32,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs139850991","featureCrossReferences":[{"database":"dbSNP","id":"rs139850991"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18407553"}],"featureId":"VAR_054670","alternativeSequence":{"originalSequence":"D","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":32,"modifier":"EXACT"},"end":{"value":32,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"}],"featureId":"VAR_054671","alternativeSequence":{"originalSequence":"D","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":40,"modifier":"EXACT"},"end":{"value":40,"modifier":"EXACT"}},"description":"in MPS3A; intermediate; dbSNP:rs1598758001","featureCrossReferences":[{"database":"dbSNP","id":"rs1598758001"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007388","alternativeSequence":{"originalSequence":"Y","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":42,"modifier":"EXACT"},"end":{"value":42,"modifier":"EXACT"}},"description":"in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12000360"}],"featureId":"VAR_054672","alternativeSequence":{"originalSequence":"N","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":44,"modifier":"EXACT"},"end":{"value":44,"modifier":"EXACT"}},"description":"in MPS3A; severe; dbSNP:rs1057521146","featureCrossReferences":[{"database":"dbSNP","id":"rs1057521146"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007389","alternativeSequence":{"originalSequence":"A","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":66,"modifier":"EXACT"},"end":{"value":66,"modifier":"EXACT"}},"description":"in MPS3A; intermediate/severe; common mutation in Italy; dbSNP:rs104894637","featureCrossReferences":[{"database":"dbSNP","id":"rs104894637"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21671382"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007390","alternativeSequence":{"originalSequence":"S","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":74,"modifier":"EXACT"},"end":{"value":74,"modifier":"EXACT"}},"description":"in MPS3A; intermediate/severe; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum; dbSNP:rs104894636","featureCrossReferences":[{"database":"dbSNP","id":"rs104894636"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11793481"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146460"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18407553"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21671382"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007391","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":74,"modifier":"EXACT"},"end":{"value":74,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs778336949","featureCrossReferences":[{"database":"dbSNP","id":"rs778336949"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9401012"}],"featureId":"VAR_007392","alternativeSequence":{"originalSequence":"R","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":79,"modifier":"EXACT"},"end":{"value":79,"modifier":"EXACT"}},"description":"in MPS3A; severe; dbSNP:rs779703983","featureCrossReferences":[{"database":"dbSNP","id":"rs779703983"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"}],"featureId":"VAR_007393","alternativeSequence":{"originalSequence":"T","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":84,"modifier":"EXACT"},"end":{"value":85,"modifier":"EXACT"}},"description":"in MPS3A","featureId":"VAR_007394","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":84,"modifier":"EXACT"},"end":{"value":84,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"}],"featureId":"VAR_054673","alternativeSequence":{"originalSequence":"H","alternativeSequences":["Y"]}},{"type":"Natural variant","location":{"start":{"value":85,"modifier":"EXACT"},"end":{"value":85,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9744479"}],"featureId":"VAR_007395","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":88,"modifier":"EXACT"},"end":{"value":88,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs1299601360","featureCrossReferences":[{"database":"dbSNP","id":"rs1299601360"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16311287"}],"featureId":"VAR_054674","alternativeSequence":{"originalSequence":"M","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":90,"modifier":"EXACT"},"end":{"value":90,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs774010006","featureCrossReferences":[{"database":"dbSNP","id":"rs774010006"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9401012"}],"featureId":"VAR_007396","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":106,"modifier":"EXACT"},"end":{"value":106,"modifier":"EXACT"}},"description":"in MPS3A; shows 3.3% activity of the expressed wild-type enzyme; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146460"}],"featureId":"VAR_054675","alternativeSequence":{"originalSequence":"S","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":122,"modifier":"EXACT"},"end":{"value":122,"modifier":"EXACT"}},"description":"in MPS3A; intermediate; dbSNP:rs761607612","featureCrossReferences":[{"database":"dbSNP","id":"rs761607612"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007397","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":128,"modifier":"EXACT"},"end":{"value":128,"modifier":"EXACT"}},"description":"in MPS3A; intermediate; dbSNP:rs104894642","featureCrossReferences":[{"database":"dbSNP","id":"rs104894642"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12702166"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007398","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":131,"modifier":"EXACT"},"end":{"value":131,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs370636303","featureCrossReferences":[{"database":"dbSNP","id":"rs370636303"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9285796"}],"featureId":"VAR_007399","alternativeSequence":{"originalSequence":"V","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":139,"modifier":"EXACT"},"end":{"value":139,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs775112689","featureCrossReferences":[{"database":"dbSNP","id":"rs775112689"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9285796"}],"featureId":"VAR_007400","alternativeSequence":{"originalSequence":"T","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":146,"modifier":"EXACT"},"end":{"value":146,"modifier":"EXACT"}},"description":"in MPS3A; severe; dbSNP:rs749358773","featureCrossReferences":[{"database":"dbSNP","id":"rs749358773"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007401","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":150,"modifier":"EXACT"},"end":{"value":150,"modifier":"EXACT"}},"description":"in MPS3A; severe; dbSNP:rs104894638","featureCrossReferences":[{"database":"dbSNP","id":"rs104894638"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007402","alternativeSequence":{"originalSequence":"R","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":150,"modifier":"EXACT"},"end":{"value":150,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs1479831530","featureCrossReferences":[{"database":"dbSNP","id":"rs1479831530"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"}],"featureId":"VAR_054676","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":163,"modifier":"EXACT"},"end":{"value":163,"modifier":"EXACT"}},"description":"in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the mutant protein shows instability in the lysosomes","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146460"}],"featureId":"VAR_054677","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":179,"modifier":"EXACT"},"end":{"value":179,"modifier":"EXACT"}},"description":"in MPS3A; severe; dbSNP:rs774773010","featureCrossReferences":[{"database":"dbSNP","id":"rs774773010"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007403","alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":182,"modifier":"EXACT"},"end":{"value":182,"modifier":"EXACT"}},"description":"in MPS3A; intermediate; dbSNP:rs529855742","featureCrossReferences":[{"database":"dbSNP","id":"rs529855742"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007404","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":191,"modifier":"EXACT"},"end":{"value":191,"modifier":"EXACT"}},"description":"in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum; dbSNP:rs753666460","featureCrossReferences":[{"database":"dbSNP","id":"rs753666460"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146460"}],"featureId":"VAR_054678","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":193,"modifier":"EXACT"},"end":{"value":193,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9401012"}],"featureId":"VAR_007405","alternativeSequence":{"originalSequence":"F","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":206,"modifier":"EXACT"},"end":{"value":206,"modifier":"EXACT"}},"description":"in MPS3A; the mutant enzyme retains 8% residual activity; dbSNP:rs104894643","featureCrossReferences":[{"database":"dbSNP","id":"rs104894643"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15637719"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9744479"}],"featureId":"VAR_007406","alternativeSequence":{"originalSequence":"R","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":226,"modifier":"EXACT"},"end":{"value":226,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007407","alternativeSequence":{"originalSequence":"V","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":227,"modifier":"EXACT"},"end":{"value":227,"modifier":"EXACT"}},"description":"in MPS3A; severe; dbSNP:rs774602372","featureCrossReferences":[{"database":"dbSNP","id":"rs774602372"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007408","alternativeSequence":{"originalSequence":"P","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":234,"modifier":"EXACT"},"end":{"value":234,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs113641837","featureCrossReferences":[{"database":"dbSNP","id":"rs113641837"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9285796"}],"featureId":"VAR_007409","alternativeSequence":{"originalSequence":"A","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":235,"modifier":"EXACT"},"end":{"value":235,"modifier":"EXACT"}},"description":"in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme; dbSNP:rs753472891","featureCrossReferences":[{"database":"dbSNP","id":"rs753472891"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12000360"}],"featureId":"VAR_054679","alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":235,"modifier":"EXACT"},"end":{"value":235,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs763800418","featureCrossReferences":[{"database":"dbSNP","id":"rs763800418"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9401012"}],"featureId":"VAR_007410","alternativeSequence":{"originalSequence":"D","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":245,"modifier":"EXACT"},"end":{"value":245,"modifier":"EXACT"}},"description":"in MPS3A; severe; common mutation in Western Europe and Australia; dbSNP:rs104894635","featureCrossReferences":[{"database":"dbSNP","id":"rs104894635"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18407553"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21671382"}],"featureId":"VAR_007411","alternativeSequence":{"originalSequence":"R","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":251,"modifier":"EXACT"},"end":{"value":251,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs144461610","featureCrossReferences":[{"database":"dbSNP","id":"rs144461610"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18407553"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21671382"}],"featureId":"VAR_054680","alternativeSequence":{"originalSequence":"G","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":273,"modifier":"EXACT"},"end":{"value":273,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs1046551417","featureCrossReferences":[{"database":"dbSNP","id":"rs1046551417"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"}],"featureId":"VAR_054681","alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":288,"modifier":"EXACT"},"end":{"value":288,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11793481"}],"featureId":"VAR_054682","alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":293,"modifier":"EXACT"},"end":{"value":293,"modifier":"EXACT"}},"description":"in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme; dbSNP:rs143947056","featureCrossReferences":[{"database":"dbSNP","id":"rs143947056"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12000360"}],"featureId":"VAR_054683","alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":293,"modifier":"EXACT"},"end":{"value":293,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17128482"}],"featureId":"VAR_054684","alternativeSequence":{"originalSequence":"P","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":298,"modifier":"EXACT"},"end":{"value":298,"modifier":"EXACT"}},"description":"in MPS3A; associated with a slowly progressive clinical phenotype; rapidly degraded but small amounts of the mutant protein are correctly transported to the lysosome; low but significant residual enzymatic activity; dbSNP:rs138504221","featureCrossReferences":[{"database":"dbSNP","id":"rs138504221"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18407553"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21671382"}],"featureId":"VAR_007412","alternativeSequence":{"originalSequence":"S","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":300,"modifier":"EXACT"},"end":{"value":300,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15902564"}],"featureId":"VAR_054685","alternativeSequence":{"originalSequence":"E","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":304,"modifier":"EXACT"},"end":{"value":304,"modifier":"EXACT"}},"description":"in dbSNP:rs745884647","featureCrossReferences":[{"database":"dbSNP","id":"rs745884647"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17128482"}],"featureId":"VAR_054686","alternativeSequence":{"originalSequence":"R","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":307,"modifier":"EXACT"},"end":{"value":307,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15902564"}],"featureId":"VAR_054687","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":321,"modifier":"EXACT"},"end":{"value":321,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs758756630","featureCrossReferences":[{"database":"dbSNP","id":"rs758756630"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9401012"}],"featureId":"VAR_007413","alternativeSequence":{"originalSequence":"T","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":322,"modifier":"EXACT"},"end":{"value":322,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"}],"featureId":"VAR_054688","alternativeSequence":{"originalSequence":"I","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":354,"modifier":"EXACT"},"end":{"value":354,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9744479"}],"featureId":"VAR_007414","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":355,"modifier":"EXACT"},"end":{"value":355,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs766938111","featureCrossReferences":[{"database":"dbSNP","id":"rs766938111"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"}],"featureId":"VAR_054689","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":361,"modifier":"EXACT"},"end":{"value":361,"modifier":"EXACT"}},"description":"in dbSNP:rs9894254","featureCrossReferences":[{"database":"dbSNP","id":"rs9894254"}],"featureId":"VAR_007415","alternativeSequence":{"originalSequence":"V","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":364,"modifier":"EXACT"},"end":{"value":364,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs1428699412","featureCrossReferences":[{"database":"dbSNP","id":"rs1428699412"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9401012"}],"featureId":"VAR_007416","alternativeSequence":{"originalSequence":"S","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":365,"modifier":"EXACT"},"end":{"value":502,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28101780"}],"featureId":"VAR_079426","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":369,"modifier":"EXACT"},"end":{"value":369,"modifier":"EXACT"}},"description":"in MPS3A; intermediate; dbSNP:rs104894640","featureCrossReferences":[{"database":"dbSNP","id":"rs104894640"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12702166"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007417","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":372,"modifier":"EXACT"},"end":{"value":372,"modifier":"EXACT"}},"description":"in dbSNP:rs58786455","featureCrossReferences":[{"database":"dbSNP","id":"rs58786455"}],"featureId":"VAR_061884","alternativeSequence":{"originalSequence":"M","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":374,"modifier":"EXACT"},"end":{"value":374,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs1237611456","featureCrossReferences":[{"database":"dbSNP","id":"rs1237611456"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"}],"featureId":"VAR_054690","alternativeSequence":{"originalSequence":"Y","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":377,"modifier":"EXACT"},"end":{"value":377,"modifier":"EXACT"}},"description":"in MPS3A; severe; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme; dbSNP:rs772311757","featureCrossReferences":[{"database":"dbSNP","id":"rs772311757"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12000360"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007418","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":377,"modifier":"EXACT"},"end":{"value":377,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs746037899","featureCrossReferences":[{"database":"dbSNP","id":"rs746037899"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9285796"}],"featureId":"VAR_007419","alternativeSequence":{"originalSequence":"R","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":380,"modifier":"EXACT"},"end":{"value":380,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs144143780","featureCrossReferences":[{"database":"dbSNP","id":"rs144143780"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9285796"}],"featureId":"VAR_007420","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":381,"modifier":"EXACT"},"end":{"value":381,"modifier":"EXACT"}},"description":"in MPS3A","featureId":"VAR_054691","alternativeSequence":{"originalSequence":"H","alternativeSequences":["HQR"]}},{"type":"Natural variant","location":{"start":{"value":386,"modifier":"EXACT"},"end":{"value":386,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9744479"}],"featureId":"VAR_007421","alternativeSequence":{"originalSequence":"L","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":387,"modifier":"EXACT"},"end":{"value":387,"modifier":"EXACT"}},"description":"in dbSNP:rs62620232","featureCrossReferences":[{"database":"dbSNP","id":"rs62620232"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17128482"}],"featureId":"VAR_054692","alternativeSequence":{"originalSequence":"V","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":389,"modifier":"EXACT"},"end":{"value":389,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs764057581","featureCrossReferences":[{"database":"dbSNP","id":"rs764057581"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9401012"}],"featureId":"VAR_007422","alternativeSequence":{"originalSequence":"N","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":394,"modifier":"EXACT"},"end":{"value":394,"modifier":"EXACT"}},"description":"in dbSNP:rs34297805","featureCrossReferences":[{"database":"dbSNP","id":"rs34297805"}],"featureId":"VAR_052517","alternativeSequence":{"originalSequence":"M","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":403,"modifier":"EXACT"},"end":{"value":403,"modifier":"EXACT"}},"description":"in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146460"}],"featureId":"VAR_054693","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":432,"modifier":"EXACT"},"end":{"value":435,"modifier":"EXACT"}},"description":"in MPS3A","featureId":"VAR_054694","alternativeSequence":{"originalSequence":"YRAR","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":433,"modifier":"EXACT"},"end":{"value":433,"modifier":"EXACT"}},"description":"in MPS3A; severe; dbSNP:rs104894641","featureCrossReferences":[{"database":"dbSNP","id":"rs104894641"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12702166"}],"featureId":"VAR_054695","alternativeSequence":{"originalSequence":"R","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":433,"modifier":"EXACT"},"end":{"value":433,"modifier":"EXACT"}},"description":"in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum; dbSNP:rs777267343","featureCrossReferences":[{"database":"dbSNP","id":"rs777267343"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146460"}],"featureId":"VAR_054696","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":436,"modifier":"EXACT"},"end":{"value":438,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"}],"featureId":"VAR_054697","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":447,"modifier":"EXACT"},"end":{"value":447,"modifier":"EXACT"}},"description":"in MPS3A; dbSNP:rs104894639","featureCrossReferences":[{"database":"dbSNP","id":"rs104894639"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9158154"}],"featureId":"VAR_007423","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":456,"modifier":"EXACT"},"end":{"value":456,"modifier":"EXACT"}},"description":"does not affect enzyme activity; cells transfected with the mutant enzyme contain a 62 kDa precursor and a 56 kDa mature form as cells transfected with the wild-type enzyme; dbSNP:rs7503034","featureCrossReferences":[{"database":"dbSNP","id":"rs7503034"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12000360"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12702166"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15637719"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9158154"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9554748"}],"featureId":"VAR_007424","alternativeSequence":{"originalSequence":"R","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":477,"modifier":"EXACT"},"end":{"value":477,"modifier":"EXACT"}},"description":"in MPS3A; uncertain significance; dbSNP:rs1064795109","featureCrossReferences":[{"database":"dbSNP","id":"rs1064795109"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28101780"}],"featureId":"VAR_079427","alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":486,"modifier":"EXACT"},"end":{"value":486,"modifier":"EXACT"}},"description":"in MPS3A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11182930"}],"featureId":"VAR_054698","alternativeSequence":{"originalSequence":"V","alternativeSequences":["F"]}},{"type":"Beta strand","location":{"start":{"value":24,"modifier":"EXACT"},"end":{"value":32,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":38,"modifier":"EXACT"},"end":{"value":40,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":43,"modifier":"EXACT"},"end":{"value":45,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":48,"modifier":"EXACT"},"end":{"value":54,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":57,"modifier":"EXACT"},"end":{"value":64,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":70,"modifier":"EXACT"},"end":{"value":77,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":83,"modifier":"EXACT"},"end":{"value":86,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Turn","location":{"start":{"value":94,"modifier":"EXACT"},"end":{"value":96,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":107,"modifier":"EXACT"},"end":{"value":113,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":117,"modifier":"EXACT"},"end":{"value":122,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Turn","location":{"start":{"value":129,"modifier":"EXACT"},"end":{"value":131,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":135,"modifier":"EXACT"},"end":{"value":139,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":146,"modifier":"EXACT"},"end":{"value":150,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":152,"modifier":"EXACT"},"end":{"value":164,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":171,"modifier":"EXACT"},"end":{"value":176,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Turn","location":{"start":{"value":184,"modifier":"EXACT"},"end":{"value":186,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":188,"modifier":"EXACT"},"end":{"value":190,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Turn","location":{"start":{"value":195,"modifier":"EXACT"},"end":{"value":198,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":199,"modifier":"EXACT"},"end":{"value":201,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Turn","location":{"start":{"value":202,"modifier":"EXACT"},"end":{"value":204,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Turn","location":{"start":{"value":217,"modifier":"EXACT"},"end":{"value":219,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":230,"modifier":"EXACT"},"end":{"value":259,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":263,"modifier":"EXACT"},"end":{"value":265,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":266,"modifier":"EXACT"},"end":{"value":274,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":287,"modifier":"EXACT"},"end":{"value":290,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":294,"modifier":"EXACT"},"end":{"value":297,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Turn","location":{"start":{"value":303,"modifier":"EXACT"},"end":{"value":306,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":307,"modifier":"EXACT"},"end":{"value":314,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":315,"modifier":"EXACT"},"end":{"value":317,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":318,"modifier":"EXACT"},"end":{"value":325,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":329,"modifier":"EXACT"},"end":{"value":331,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":334,"modifier":"EXACT"},"end":{"value":336,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":349,"modifier":"EXACT"},"end":{"value":352,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":360,"modifier":"EXACT"},"end":{"value":369,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":373,"modifier":"EXACT"},"end":{"value":381,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":384,"modifier":"EXACT"},"end":{"value":389,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Turn","location":{"start":{"value":390,"modifier":"EXACT"},"end":{"value":393,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":395,"modifier":"EXACT"},"end":{"value":397,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":400,"modifier":"EXACT"},"end":{"value":403,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":406,"modifier":"EXACT"},"end":{"value":417,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":427,"modifier":"EXACT"},"end":{"value":431,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":435,"modifier":"EXACT"},"end":{"value":440,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Turn","location":{"start":{"value":441,"modifier":"EXACT"},"end":{"value":443,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":455,"modifier":"EXACT"},"end":{"value":457,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Helix","location":{"start":{"value":458,"modifier":"EXACT"},"end":{"value":474,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Turn","location":{"start":{"value":478,"modifier":"EXACT"},"end":{"value":484,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":485,"modifier":"EXACT"},"end":{"value":487,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":491,"modifier":"EXACT"},"end":{"value":497,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]},{"type":"Beta strand","location":{"start":{"value":500,"modifier":"EXACT"},"end":{"value":502,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4MHX"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0106","category":"Ligand","name":"Calcium"},{"id":"KW-0903","category":"Technical term","name":"Direct protein sequencing"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-1015","category":"PTM","name":"Disulfide bond"},{"id":"KW-0325","category":"PTM","name":"Glycoprotein"},{"id":"KW-0378","category":"Molecular function","name":"Hydrolase"},{"id":"KW-0458","category":"Cellular component","name":"Lysosome"},{"id":"KW-0479","category":"Ligand","name":"Metal-binding"},{"id":"KW-0510","category":"Disease","name":"Mucopolysaccharidosis"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0732","category":"Domain","name":"Signal"}],"references":[{"referenceNumber":1,"citation":{"id":"7493035","citationType":"journal article","authors":["Scott H.S.","Blanch L.","Guo X.-H.","Freeman C.","Orsborn A.","Baker E.","Sutherland G.R.","Morris C.P.","Hopwood J.J."],"citationCrossReferences":[{"database":"PubMed","id":"7493035"},{"database":"DOI","id":"10.1038/ng1295-465"}],"title":"Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.","publicationDate":"1995","journal":"Nat. Genet.","firstPage":"465","lastPage":"467","volume":"11"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA]","PROTEIN SEQUENCE OF 21-45","CATALYTIC ACTIVITY","FUNCTION"],"referenceComments":[{"value":"Kidney","type":"TISSUE"},{"value":"Testis","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"CI-6DI7MOM8D4MV","citationType":"submission","authors":["Karageorgos L.E.","Guo X.H.","Blanch L.","Weber B.","Anson D.S.","Scott H.S.","Hopwood J.J."],"publicationDate":"NOV-1996","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA]"]},{"referenceNumber":3,"citation":{"id":"14702039","citationType":"journal article","authors":["Ota T.","Suzuki Y.","Nishikawa T.","Otsuki T.","Sugiyama T.","Irie R.","Wakamatsu A.","Hayashi K.","Sato H.","Nagai K.","Kimura K.","Makita H.","Sekine M.","Obayashi M.","Nishi T.","Shibahara T.","Tanaka T.","Ishii S.","Yamamoto J.","Saito K.","Kawai Y.","Isono Y.","Nakamura Y.","Nagahari K.","Murakami K.","Yasuda T.","Iwayanagi T.","Wagatsuma M.","Shiratori A.","Sudo H.","Hosoiri T.","Kaku Y.","Kodaira H.","Kondo H.","Sugawara M.","Takahashi M.","Kanda K.","Yokoi T.","Furuya T.","Kikkawa E.","Omura Y.","Abe K.","Kamihara K.","Katsuta N.","Sato K.","Tanikawa M.","Yamazaki M.","Ninomiya K.","Ishibashi T.","Yamashita H.","Murakawa K.","Fujimori K.","Tanai H.","Kimata M.","Watanabe M.","Hiraoka S.","Chiba Y.","Ishida S.","Ono Y.","Takiguchi S.","Watanabe S.","Yosida M.","Hotuta T.","Kusano J.","Kanehori K.","Takahashi-Fujii A.","Hara H.","Tanase T.-O.","Nomura Y.","Togiya S.","Komai F.","Hara R.","Takeuchi K.","Arita M.","Imose N.","Musashino K.","Yuuki H.","Oshima A.","Sasaki N.","Aotsuka S.","Yoshikawa Y.","Matsunawa H.","Ichihara T.","Shiohata N.","Sano S.","Moriya S.","Momiyama H.","Satoh N.","Takami S.","Terashima Y.","Suzuki O.","Nakagawa S.","Senoh A.","Mizoguchi H.","Goto Y.","Shimizu F.","Wakebe H.","Hishigaki H.","Watanabe T.","Sugiyama A.","Takemoto M.","Kawakami B.","Yamazaki M.","Watanabe K.","Kumagai A.","Itakura S.","Fukuzumi Y.","Fujimori Y.","Komiyama M.","Tashiro H.","Tanigami A.","Fujiwara T.","Ono T.","Yamada K.","Fujii Y.","Ozaki K.","Hirao M.","Ohmori Y.","Kawabata A.","Hikiji T.","Kobatake N.","Inagaki H.","Ikema Y.","Okamoto S.","Okitani R.","Kawakami T.","Noguchi S.","Itoh T.","Shigeta K.","Senba T.","Matsumura K.","Nakajima Y.","Mizuno T.","Morinaga M.","Sasaki M.","Togashi T.","Oyama M.","Hata H.","Watanabe M.","Komatsu T.","Mizushima-Sugano J.","Satoh T.","Shirai Y.","Takahashi Y.","Nakagawa K.","Okumura K.","Nagase T.","Nomura N.","Kikuchi H.","Masuho Y.","Yamashita R.","Nakai K.","Yada T.","Nakamura Y.","Ohara O.","Isogai T.","Sugano S."],"citationCrossReferences":[{"database":"PubMed","id":"14702039"},{"database":"DOI","id":"10.1038/ng1285"}],"title":"Complete sequencing and characterization of 21,243 full-length human cDNAs.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"40","lastPage":"45","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"]},{"referenceNumber":4,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"],"referenceComments":[{"value":"Pancreas","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"12754519","citationType":"journal article","authors":["Zhang H.","Li X.-J.","Martin D.B.","Aebersold R."],"citationCrossReferences":[{"database":"PubMed","id":"12754519"},{"database":"DOI","id":"10.1038/nbt827"}],"title":"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.","publicationDate":"2003","journal":"Nat. Biotechnol.","firstPage":"660","lastPage":"666","volume":"21"},"referencePositions":["GLYCOSYLATION AT ASN-41 AND ASN-264"]},{"referenceNumber":6,"citation":{"id":"19159218","citationType":"journal article","authors":["Chen R.","Jiang X.","Sun D.","Han G.","Wang F.","Ye M.","Wang L.","Zou H."],"citationCrossReferences":[{"database":"PubMed","id":"19159218"},{"database":"DOI","id":"10.1021/pr8008012"}],"title":"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.","publicationDate":"2009","journal":"J. Proteome Res.","firstPage":"651","lastPage":"661","volume":"8"},"referencePositions":["GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-41 AND ASN-413"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"24275569","citationType":"journal article","authors":["Bian Y.","Song C.","Cheng K.","Dong M.","Wang F.","Huang J.","Sun D.","Wang L.","Ye M.","Zou H."],"citationCrossReferences":[{"database":"PubMed","id":"24275569"},{"database":"DOI","id":"10.1016/j.jprot.2013.11.014"}],"title":"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.","publicationDate":"2014","journal":"J. Proteomics","firstPage":"253","lastPage":"262","volume":"96"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":8,"citation":{"id":"24816101","citationType":"journal article","authors":["Sidhu N.S.","Schreiber K.","Propper K.","Becker S.","Uson I.","Sheldrick G.M.","Gartner J.","Kratzner R.","Steinfeld R."],"citationCrossReferences":[{"database":"PubMed","id":"24816101"},{"database":"DOI","id":"10.1107/s1399004714002739"}],"title":"Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.","publicationDate":"2014","journal":"Acta Crystallogr. D","firstPage":"1321","lastPage":"1335","volume":"70"},"referencePositions":["X-RAY CRYSTALLOGRAPHY (2.00 ANGSTROMS) IN COMPLEX WITH CALCIUM","FUNCTION","CATALYTIC ACTIVITY","ACTIVE SITE","GLYCOSYLATION AT ASN-41; ASN-151; ASN-264 AND ASN-413","OXOALANINE AT CYS-70","DISULFIDE BONDS"]},{"referenceNumber":9,"citation":{"id":"9158154","citationType":"journal article","authors":["Blanch L.","Weber B.","Guo X.-H.","Scott H.S.","Hopwood J.J."],"citationCrossReferences":[{"database":"PubMed","id":"9158154"},{"database":"DOI","id":"10.1093/hmg/6.5.787"}],"title":"Molecular defects in Sanfilippo syndrome type A.","publicationDate":"1997","journal":"Hum. Mol. Genet.","firstPage":"787","lastPage":"791","volume":"6"},"referencePositions":["VARIANT MPS3A LYS-447","VARIANT HIS-456"]},{"referenceNumber":10,"citation":{"id":"9285796","citationType":"journal article","authors":["Weber B.","Guo X.-H.","Wraith J.E.","Cooper A.","Kleijer W.J.","Bunge S.","Hopwood J.J."],"citationCrossReferences":[{"database":"PubMed","id":"9285796"},{"database":"DOI","id":"10.1093/hmg/6.9.1573"}],"title":"Novel mutations in Sanfilippo A syndrome: implications for enzyme function.","publicationDate":"1997","journal":"Hum. Mol. Genet.","firstPage":"1573","lastPage":"1579","volume":"6"},"referencePositions":["VARIANTS MPS3A MET-131; MET-139; GLY-234; HIS-377 AND ARG-380"]},{"referenceNumber":11,"citation":{"id":"9401012","citationType":"journal article","authors":["Bunge S.","Ince H.","Steglich C.","Kleijer W.J.","Beck M.","Zaremba J.","van Diggelen O.P.","Weber B.","Hopwood J.J.","Gal A."],"citationCrossReferences":[{"database":"PubMed","id":"9401012"},{"database":"DOI","id":"10.1002/(sici)1098-1004(1997)10:6<479::aid-humu10>3.0.co;2-x"}],"title":"Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).","publicationDate":"1997","journal":"Hum. Mutat.","firstPage":"479","lastPage":"485","volume":"10"},"referencePositions":["VARIANTS MPS3A HIS-74; ARG-90; LEU-193; VAL-235; ALA-321; ARG-364 AND LYS-389"]},{"referenceNumber":12,"citation":{"id":"9554748","citationType":"journal article","authors":["di Natale P.","Balzano N.","Esposito S.","Villani G.R.D."],"citationCrossReferences":[{"database":"PubMed","id":"9554748"},{"database":"DOI","id":"10.1002/(sici)1098-1004(1998)11:4<313::aid-humu9>3.0.co;2-p"}],"title":"Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.","publicationDate":"1998","journal":"Hum. Mutat.","firstPage":"313","lastPage":"320","volume":"11"},"referencePositions":["VARIANTS MPS3A ASN-40; THR-44; TRP-66; CYS-74; ARG-122; LEU-128; PRO-146; GLN-150; ASN-179; CYS-182; ARG-227; LYS-369 AND CYS-377","VARIANTS ALA-226 AND HIS-456"]},{"referenceNumber":13,"citation":{"id":"9744479","citationType":"journal article","authors":["Montfort M.","Vilageliu L.","Garcia-Giralt N.","Guidi S.","Coll M.J.","Chabas A.","Grinberg D."],"citationCrossReferences":[{"database":"PubMed","id":"9744479"},{"database":"DOI","id":"10.1002/(sici)1098-1004(1998)12:4<274::aid-humu9>3.0.co;2-f"}],"title":"Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.","publicationDate":"1998","journal":"Hum. Mutat.","firstPage":"274","lastPage":"279","volume":"12"},"referencePositions":["VARIANTS MPS3A ARG-85; PRO-206; PRO-354 AND ARG-386"]},{"referenceNumber":14,"citation":{"id":"11182930","citationType":"journal article","authors":["Beesley C.E.","Young E.P.","Vellodi A.","Winchester B.G."],"citationCrossReferences":[{"database":"PubMed","id":"11182930"},{"database":"DOI","id":"10.1136/jmg.37.9.704"}],"title":"Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.","publicationDate":"2000","journal":"J. Med. Genet.","firstPage":"704","lastPage":"707","volume":"37"},"referencePositions":["VARIANTS MPS3A GLY-32; TRP-66; CYS-74; PRO-79; TYR-84; ARG-122; TRP-150; ASN-235; HIS-245; ASN-273; PRO-298; SER-322; LYS-355; HIS-374; GLN-ARG-381 INS; TRP-433; 436-TRP--LEU-438 DEL AND PHE-486","VARIANT HIS-456"]},{"referenceNumber":15,"citation":{"id":"12000360","citationType":"journal article","authors":["Lee-Chen G.J.","Lin S.P.","Ko M.H.","Chuang C.K.","Chen C.P.","Lee H.H.","Cheng S.C.","Shen C.H.","Tseng K.L.","Li C.L."],"citationCrossReferences":[{"database":"PubMed","id":"12000360"},{"database":"DOI","id":"10.1034/j.1399-0004.2002.610304.x"}],"title":"Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).","publicationDate":"2002","journal":"Clin. Genet.","firstPage":"192","lastPage":"197","volume":"61"},"referencePositions":["VARIANTS MPS3A LYS-42; ASN-235; SER-293 AND CYS-377","VARIANT HIS-456","CHARACTERIZATION OF VARIANTS MPS3A LYS-42; ASN-235; SER-293 AND CYS-377","CHARACTERIZATION OF VARIANT HIS-456"]},{"referenceNumber":16,"citation":{"id":"11793481","citationType":"journal article","authors":["Emre S.","Terzioglu M.","Tokatli A.","Coskun T.","Ozalp I.","Weber B.","Hopwood J.J."],"citationCrossReferences":[{"database":"PubMed","id":"11793481"},{"database":"DOI","id":"10.1002/humu.9009"}],"title":"Sanfilippo syndrome in Turkey: identification of novel mutations in subtypes A and B.","publicationDate":"2002","journal":"Hum. Mutat.","firstPage":"184","lastPage":"185","volume":"19"},"referencePositions":["VARIANTS MPS3A CYS-74 AND SER-288"]},{"referenceNumber":17,"citation":{"id":"12702166","citationType":"journal article","authors":["Di Natale P.","Villani G.R.D.","Di Domenico C.","Daniele A.","Dionisi Vici C.","Bartuli A."],"citationCrossReferences":[{"database":"PubMed","id":"12702166"},{"database":"DOI","id":"10.1034/j.1399-0004.2003.00053.x"}],"title":"Analysis of Sanfilippo A gene mutations in a large pedigree.","publicationDate":"2003","journal":"Clin. Genet.","firstPage":"314","lastPage":"318","volume":"63"},"referencePositions":["VARIANTS MPS3A LEU-128; LYS-369 AND GLN-433","VARIANT HIS-456"]},{"referenceNumber":18,"citation":{"id":"15146460","citationType":"journal article","authors":["Muschol N.","Storch S.","Ballhausen D.","Beesley C.","Westermann J.-C.","Gal A.","Ullrich K.","Hopwood J.J.","Winchester B.","Braulke T."],"citationCrossReferences":[{"database":"PubMed","id":"15146460"},{"database":"DOI","id":"10.1002/humu.20037"}],"title":"Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.","publicationDate":"2004","journal":"Hum. Mutat.","firstPage":"559","lastPage":"566","volume":"23"},"referencePositions":["VARIANTS MPS3A CYS-74; ARG-106; PRO-163; ARG-191; TYR-403 DEL AND TRP-433","CHARACTERIZATION OF VARIANTS MPS3A CYS-74; ARG-106; PRO-163; ARG-191; TYR-403 DEL AND TRP-433","CATALYTIC ACTIVITY","FUNCTION","SUBCELLULAR LOCATION"]},{"referenceNumber":19,"citation":{"id":"15637719","citationType":"journal article","authors":["Gabrielli O.","Coppa G.V.","Bruni S.","Villani G.R.D.","Pontarelli G.","Di Natale P."],"citationCrossReferences":[{"database":"PubMed","id":"15637719"},{"database":"DOI","id":"10.1002/ajmg.a.30552"}],"title":"An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.","publicationDate":"2005","journal":"Am. J. Med. Genet. A","firstPage":"85","lastPage":"89","volume":"133"},"referencePositions":["VARIANT MPS3A PRO-206","VARIANT HIS-456","CHARACTERIZATION OF VARIANT MPS3A PRO-206"]},{"referenceNumber":20,"citation":{"id":"15902564","citationType":"journal article","authors":["Bekri S.","Armana G.","De Ricaud D.","Osenda M.","Maire I.","Van Obberghen E.","Froissart R."],"citationCrossReferences":[{"database":"PubMed","id":"15902564"},{"database":"DOI","id":"10.1007/s10545-005-0601-0"}],"title":"Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.","publicationDate":"2005","journal":"J. Inherit. Metab. Dis.","firstPage":"601","lastPage":"602","volume":"28"},"referencePositions":["VARIANTS MPS3A VAL-300 AND PRO-307"]},{"referenceNumber":21,"citation":{"id":"17128482","citationType":"journal article","authors":["Di Natale P.","Pontarelli G.","Villani G.R.D.","Di Domenico C."],"citationCrossReferences":[{"database":"PubMed","id":"17128482"}],"title":"Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.","publicationDate":"2006","journal":"Hum. Genet.","firstPage":"679","lastPage":"679","volume":"119"},"referencePositions":["VARIANT MPS3A THR-293","VARIANTS LEU-304 AND MET-387"]},{"referenceNumber":22,"citation":{"id":"16311287","citationType":"journal article","authors":["Fiorentino F.","Biricik A.","Nuccitelli A.","De Palma R.","Kahraman S.","Iacobelli M.","Trengia V.","Caserta D.","Bonu M.A.","Borini A.","Baldi M."],"citationCrossReferences":[{"database":"PubMed","id":"16311287"},{"database":"DOI","id":"10.1093/humrep/dei382"}],"title":"Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.","publicationDate":"2006","journal":"Hum. Reprod.","firstPage":"670","lastPage":"684","volume":"21"},"referencePositions":["VARIANT MPS3A THR-88"]},{"referenceNumber":23,"citation":{"id":"18407553","citationType":"journal article","authors":["Meyer A.","Kossow K.","Gal A.","Steglich C.","Muehlhausen C.","Ullrich K.","Braulke T.","Muschol N."],"citationCrossReferences":[{"database":"PubMed","id":"18407553"},{"database":"DOI","id":"10.1002/humu.20738"}],"title":"The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).","publicationDate":"2008","journal":"Hum. Mutat.","firstPage":"770","lastPage":"770","volume":"29"},"referencePositions":["VARIANTS MPS3A GLU-32; CYS-74; HIS-245; ALA-251 AND PRO-298","ASSOCIATION OF VARIANT MPS3A PRO-298 WITH SLOWLY PROGRESSIVE PHENOTYPE"]},{"referenceNumber":24,"citation":{"id":"21671382","citationType":"journal article","authors":["Muschol N.","Pohl S.","Meyer A.","Gal A.","Ullrich K.","Braulke T."],"citationCrossReferences":[{"database":"PubMed","id":"21671382"},{"database":"DOI","id":"10.1002/ajmg.a.34053"}],"title":"Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.","publicationDate":"2011","journal":"Am. J. Med. Genet. A","firstPage":"1634","lastPage":"1639","volume":"155A"},"referencePositions":["VARIANTS MPS3A TRP-66; CYS-74; HIS-245; ALA-251 AND PRO-298","CHARACTERIZATION OF VARIANT MPS3A PRO-298"]},{"referenceNumber":25,"citation":{"id":"28101780","citationType":"journal article","authors":["Ouesleti S.","Coutinho M.F.","Ribeiro I.","Miled A.","Mosbahi D.S.","Alves S."],"citationCrossReferences":[{"database":"PubMed","id":"28101780"},{"database":"DOI","id":"10.1007/s12519-017-0005-x"}],"title":"Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.","publicationDate":"2017","journal":"World J. Pediatr.","firstPage":"374","lastPage":"380","volume":"13"},"referencePositions":["VARIANTS MPS3A 365-GLN--LEU-502 DEL AND ASN-477"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"U30894","properties":[{"key":"ProteinId","value":"AAA86530.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"U60111","properties":[{"key":"ProteinId","value":"AAB17952.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"U60107","properties":[{"key":"ProteinId","value":"AAB17952.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"U60108","properties":[{"key":"ProteinId","value":"AAB17952.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"U60109","properties":[{"key":"ProteinId","value":"AAB17952.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"U60110","properties":[{"key":"ProteinId","value":"AAB17952.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AK291257","properties":[{"key":"ProteinId","value":"BAF83946.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC047318","properties":[{"key":"ProteinId","value":"AAH47318.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS11770.1","properties":[{"key":"Description","value":"-"}]},{"database":"RefSeq","id":"NP_000190.1","properties":[{"key":"NucleotideSequenceId","value":"NM_000199.5"}]},{"database":"PDB","id":"4MHX","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.00 A"},{"key":"Chains","value":"A/B=1-502"}]},{"database":"PDB","id":"4MIV","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.40 A"},{"key":"Chains","value":"A/B/C/D/E/F/G/H=1-502"}]},{"database":"PDBsum","id":"4MHX","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4MIV","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"112346","properties":[{"key":"Interactions","value":"114"}]},{"database":"FunCoup","id":"P51688","properties":[{"key":"Number of interactors","value":"311"}]},{"database":"IntAct","id":"P51688","properties":[{"key":"Interactions","value":"37"}]},{"database":"MINT","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-SGSH","properties":[{"key":"Evidences","value":"1 NDEx IQuery Curated Pathway"}]},{"database":"STRING","id":"9606.ENSP00000314606","properties":[{"key":"Description","value":"-"}]},{"database":"GlyConnect","id":"P51688","properties":[{"key":"glycosylation","value":"1 N-Linked glycan (1 site)"}]},{"database":"GlyCosmos","id":"P51688","properties":[{"key":"glycosylation","value":"5 sites, 1 glycan"}]},{"database":"GlyGen","id":"P51688","properties":[{"key":"glycosylation","value":"6 sites, 11 N-linked glycans (4 sites), 1 O-linked glycan (1 site)"}]},{"database":"iPTMnet","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"SGSH","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000314606","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"56373","properties":[{"key":"Description","value":"-"}]},{"database":"Pumba","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"19766","properties":[{"key":"antibodies","value":"239 antibodies from 34 providers"}]},{"database":"DNASU","id":"6448","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000326317.11","properties":[{"key":"ProteinId","value":"ENSP00000314606.6"},{"key":"GeneId","value":"ENSG00000181523.14"}]},{"database":"GeneID","id":"6448","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:6448","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000326317.11","properties":[{"key":"ProteinId","value":"ENSP00000314606.6"},{"key":"RefSeqNucleotideId","value":"NM_000199.5"},{"key":"RefSeqProteinId","value":"NP_000190.1"}]},{"database":"UCSC","id":"uc002jxz.5","properties":[{"key":"OrganismName","value":"human"}]},{"database":"AGR","id":"HGNC:10818","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA35726","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"6448","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"6448","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"SGSH","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"SGSH","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:10818","properties":[{"key":"GeneName","value":"SGSH"}]},{"database":"HPA","id":"ENSG00000181523","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"SGSH","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"252900","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"605270","properties":[{"key":"Type","value":"gene"}]},{"database":"OpenTargets","id":"ENSG00000181523","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"79269","properties":[{"key":"Disease","value":"Sanfilippo syndrome type A"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000181523","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG3867","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000013080","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_006332_7_1_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"MAYPMRM","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"10012954at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"P51688","properties":[{"key":"Number of GO annotations","value":"4 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"BRENDA","id":"3.10.1.1","properties":[{"key":"OrganismId","value":"2681"}]},{"database":"PathwayCommons","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-2024096","properties":[{"key":"PathwayName","value":"HS-GAG degradation"}]},{"database":"Reactome","id":"R-HSA-2206307","properties":[{"key":"PathwayName","value":"MPS IIIA - Sanfilippo syndrome A"}]},{"database":"SignaLink","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000181523","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"6448","properties":[{"key":"hits","value":"14 hits in 1158 CRISPR screens"}]},{"database":"EvolutionaryTrace","id":"P51688","properties":[{"key":"Description","value":"-"}]},{"database":"GeneWiki","id":"SGSH","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"6448","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"P51688","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:P51688","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 17"}]},{"database":"RNAct","id":"P51688","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000181523","properties":[{"key":"ExpressionPatterns","value":"Expressed in left adrenal gland and 184 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"P51688","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0070062","properties":[{"key":"GoTerm","value":"C:extracellular exosome"},{"key":"GoEvidenceType","value":"HDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0007005","source":"PubMed","id":"23533145"}]},{"database":"GO","id":"GO:0043202","properties":[{"key":"GoTerm","value":"C:lysosomal lumen"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0005764","properties":[{"key":"GoTerm","value":"C:lysosome"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15146460"}]},{"database":"GO","id":"GO:0016250","properties":[{"key":"GoTerm","value":"F:N-sulfoglucosamine sulfohydrolase activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15146460"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7493035"}]},{"database":"GO","id":"GO:0008484","properties":[{"key":"GoTerm","value":"F:sulfuric ester hydrolase activity"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0006027","properties":[{"key":"GoTerm","value":"P:glycosaminoglycan catabolic process"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15146460"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7493035"}]},{"database":"GO","id":"GO:0030200","properties":[{"key":"GoTerm","value":"P:heparan sulfate proteoglycan catabolic process"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"15146460"}]},{"database":"CDD","id":"cd16027","properties":[{"key":"EntryName","value":"SGSH"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.720.10:FF:000026","properties":[{"key":"EntryName","value":"N-sulphoglucosamine sulphohydrolase"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.720.10","properties":[{"key":"EntryName","value":"Alkaline Phosphatase, subunit A"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR017850","properties":[{"key":"EntryName","value":"Alkaline_phosphatase_core_sf"}]},{"database":"InterPro","id":"IPR032506","properties":[{"key":"EntryName","value":"SGSH_C"}]},{"database":"InterPro","id":"IPR024607","properties":[{"key":"EntryName","value":"Sulfatase_CS"}]},{"database":"InterPro","id":"IPR000917","properties":[{"key":"EntryName","value":"Sulfatase_N"}]},{"database":"PANTHER","id":"PTHR43108","properties":[{"key":"EntryName","value":"N-ACETYLGLUCOSAMINE-6-SULFATASE FAMILY MEMBER"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR43108:SF6","properties":[{"key":"EntryName","value":"N-SULPHOGLUCOSAMINE SULPHOHYDROLASE"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF16347","properties":[{"key":"EntryName","value":"SGSH_C"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00884","properties":[{"key":"EntryName","value":"Sulfatase"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53649","properties":[{"key":"EntryName","value":"Alkaline phosphatase-like"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00523","properties":[{"key":"EntryName","value":"SULFATASE_1"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00149","properties":[{"key":"EntryName","value":"SULFATASE_2"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSCPVPACCALLLVLGLCRARPRNALLLLADDGGFESGAYNNSAIATPHLDALARRSLLFRNAFTSVSSCSPSRASLLTGLPQHQNGMYGLHQDVHHFNSFDKVRSLPLLLSQAGVRTGIIGKKHVGPETVYPFDFAYTEENGSVLQVGRNITRIKLLVRKFLQTQDDRPFFLYVAFHDPHRCGHSQPQYGTFCEKFGNGESGMGRIPDWTPQAYDPLDVLVPYFVPNTPAARADLAAQYTTVGRMDQGVGLVLQELRDAGVLNDTLVIFTSDNGIPFPSGRTNLYWPGTAEPLLVSSPEHPKRWGQVSEAYVSLLDLTPTILDWFSIPYPSYAIFGSKTIHLTGRSLLPALEAEPLWATVFGSQSHHEVTMSYPMRSVQHRHFRLVHNLNFKMPFPIDQDFYVSPTFQDLLNRTTAGQPTGWYKDLRHYYYRARWELYDRSRDPHETQNLATDPRFAQLLEMLRDQLAKWQWETHDPWVCAPDGVLEEKLSPQCQPLHNEL","length":502,"molWeight":56695,"crc64":"90C5CDAB4DCC3808","md5":"BF17E5181566EDA41804F59BFEEE7A6A"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"CATALYTIC ACTIVITY":1,"COFACTOR":1,"INTERACTION":1,"SUBCELLULAR LOCATION":1,"PTM":1,"DISEASE":1,"SIMILARITY":1},"countByFeatureType":{"Signal":1,"Chain":1,"Active site":1,"Binding site":5,"Modified residue":1,"Glycosylation":5,"Disulfide bond":2,"Natural variant":70,"Beta strand":18,"Helix":21,"Turn":10},"uniParcId":"UPI000000DBD0"}}