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Results for the Protein: P22304
124174
IDS

IDS_HUMAN RecName: Full=Iduronate 2-sulfatase; AltName: Full=Alpha-L-iduronate sulfate sulfatase; Short=Idursulfase; Contains: RecName: Full=Iduronate 2-sulfatase 42 kDa chain; Contains: RecName: Full=Iduronate 2-sulfatase 14 kDa chain; Flags: Precursor

Known Diseases associated with this Protein:
  MUCOPOLYSACCHARIDOSIS 2 (MPS2)
  MUCOPOLYSACCHARIDOSIS TYPE II
  MUCOPOLYSACCHARIDOSIS TYPE II, MILD FORM
  MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM
137
1
11
0
127
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AslA - COG3119
Sulfatase - pfam00884


Swiss-Prot Protein: P22304
Identical to: NP_000193
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AslACOG31191.1e-2333497
Sulfatasepfam008843.5e-2837405

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007364Diseasep.ALA346ASPMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007317Diseasep.ALA68GLUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007318Diseasep.ALA79GLUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_008999Diseasep.ALA82GLUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026935Diseasep.ALA205PROMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026919Diseasep.ALA85SERMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007319Diseasep.ALA85THRMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007365Diseasep.ALA346VALMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026918Diseasep.ALA82VALMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026946Polymorphismp.ARG313CYSN/A
Swiss-ProtVAR_007324Diseasep.ARG88CYSMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007377Diseasep.ARG468GLNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007375Diseasep.ARG468GLYMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026920Diseasep.ARG88GLYMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026922Diseasep.ARG95GLYMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007325Diseasep.ARG88HISMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007376Diseasep.ARG468LEUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007326Diseasep.ARG88LEUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007314Diseasep.ARG48PROMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007327Diseasep.ARG88PROMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026923Diseasep.ARG95THRMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007378Diseasep.ARG468TRPMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007316Diseasep.ASN63ASPMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026933Diseasep.ASN181ILEMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026941Diseasep.ASN265ILEMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007332Diseasep.ASN115TYRMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007355Diseasep.ASP252ASNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026944Diseasep.ASP308ASNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026948Diseasep.ASP334ASNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007313Diseasep.ASP45ASNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026943Diseasep.ASP308GLUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007348Diseasep.ASP198GLYMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_009002Diseasep.ASP334GLYMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007380Diseasep.ASP478GLYMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026932Diseasep.ASP148HISMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007381Diseasep.ASP478TYRMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007358Diseasep.ASP269VALMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026955Diseasep.CYS422ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007372Diseasep.CYS422GLYMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007345Diseasep.CYS184PHEMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007346Diseasep.CYS184TRPMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007373Diseasep.CYS432TYRMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026929Diseasep.GLN121ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026928Diseasep.GLN121HISMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007359Diseasep.GLN293HISMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_009003Diseasep.GLN465PROMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_008134Diseasep.GLU341LYSMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007374Diseasep.GLU434LYSMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026962Diseasep.GLU521LYSMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007336Diseasep.GLU125VALMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007386Diseasep.GLU521VALMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007338Diseasep.GLY134ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026951Diseasep.GLY336ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007362Diseasep.GLY340ASPMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007329Diseasep.GLY94ASPMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007350Diseasep.GLY224GLUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026950Diseasep.GLY336GLUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026931Diseasep.GLY140VALMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026938Diseasep.HIS229ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026949Diseasep.HIS335ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026930Diseasep.HIS138ASPMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007342Diseasep.HIS159PROMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007354Diseasep.HIS229TYRMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_008135Diseasep.HIS342TYRMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007383Diseasep.ILE485ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007382Diseasep.ILE485LYSMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007330Diseasep.LEU102ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026952Diseasep.LEU339ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007371Diseasep.LEU403ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026917Diseasep.LEU73PHEMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026934Diseasep.LEU182PROMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007349Diseasep.LEU221PROMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026940Diseasep.LEU259PROMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026947Diseasep.LEU314PROMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026915Diseasep.LEU41PROMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026954Diseasep.LEU410PROMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007328Diseasep.LEU92PROMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007347Diseasep.LEU196SERMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007340Diseasep.LYS135ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007339Diseasep.LYS135ASNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007352Diseasep.LYS227GLNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026953Diseasep.LYS347GLNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007366Diseasep.LYS347ILEMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026936Diseasep.LYS227METMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007367Diseasep.LYS347THRMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007335Diseasep.PRO120ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007344Diseasep.PRO160ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007357Diseasep.PRO266ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007370Diseasep.PRO358ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026959Diseasep.PRO480ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007322Diseasep.PRO86ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026958Diseasep.PRO480GLNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007321Diseasep.PRO86GLNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007334Diseasep.PRO120HISMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007356Diseasep.PRO266HISMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007379Diseasep.PRO469HISMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007353Diseasep.PRO228LEUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026939Diseasep.PRO231LEUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026956Diseasep.PRO467LEUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026957Diseasep.PRO480LEUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007320Diseasep.PRO86LEUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026937Diseasep.PRO228THRMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_008998Diseasep.SER71ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026916Diseasep.SER71ASNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007323Diseasep.SER87ASNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026942Diseasep.SER299ILEMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007369Diseasep.SER349ILEMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007360Diseasep.SER333LEUMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007341Diseasep.SER143PHEMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_008136Diseasep.SER491PHEMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007337Diseasep.SER132TRPMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026926Diseasep.SER117TYRMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026945Diseasep.THR309ALAMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007333Diseasep.THR118ILEMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007361Diseasep.TRP337ARGMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007363Diseasep.TRP345CYSMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007384Diseasep.TRP502CYSMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007385Diseasep.TRP502SERMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_009001Diseasep.TYR264ASNMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007351Diseasep.TYR225ASPMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007315Diseasep.TYR54ASPMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007331Diseasep.TYR108CYSMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007387Diseasep.TYR523CYSMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_007368Diseasep.TYR348HISMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026924Diseasep.TYR108SERMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026961Diseasep.TYR490SERMucopolysaccharidosis 2 (MPS2)
Swiss-ProtVAR_026921Diseasep.VAL89PHEMucopolysaccharidosis 2 (MPS2)
OMIM300823.0013 Diseasep.ARG468GLNMUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM
OMIM300823.0015 Diseasep.ARG468LEUMUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM
OMIM300823.0005 Diseasep.ARG172TERMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0001 Diseasep.ARG443TERMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0012 Diseasep.ARG468TRPMUCOPOLYSACCHARIDOSIS TYPE II, MILD FORM
OMIM300823.0008 Diseasep.CYS422GLYMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0009 Diseasep.LYS135ARGMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0004 Diseasep.PRO160ARGMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0002 Diseasep.SER333LEUMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0003 Diseasep.TRP502SERMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0010 Diseasep.TRP475TERMUCOPOLYSACCHARIDOSIS TYPE II



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