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Results for the Protein: P35475
92090608

IDUA_HUMAN RecName: Full=Alpha-L-iduronidase; Flags: Precursor

Known Diseases associated with this Protein:
  HURLER SYNDROME
  HURLER SYNDROME, INCLUDED
  HURLER-SCHEIE SYNDROME
  IDUA PSEUDODEFICIENCY
  MUCOPOLYSACCHARIDOSIS 1H (MPS1H)
  MUCOPOLYSACCHARIDOSIS 1H/S (MPS1H/S)
  MUCOPOLYSACCHARIDOSIS 1S (MPS1S)
  SCHEIE SYNDROME
65
12
17
3
57
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Glyco_hydro_39 - pfam01229


Swiss-Prot Protein: P35475
Identical to: NP_000194
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Glyco_hydro_39pfam0122923543

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_003361Diseasep.ALA327PROMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_066227Diseasep.ALA436PROMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_017435Polymorphismp.ALA300THRN/A
dbSNPrs6831280 Polymorphismp.ALA361THRN/A
Swiss-ProtVAR_066231Polymorphismp.ALA591THRN/A
Swiss-ProtVAR_003352Diseasep.ALA75THRMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_020975Diseasep.ALA79VALMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_020984Diseasep.ARG363CYSMucopolysaccharidosis 1H/S (MPS1H/S)
dbSNPrs3755955 Polymorphismp.ARG105GLNN/A
Swiss-ProtVAR_003354Diseasep.ARG89GLNMucopolysaccharidosis 1S (MPS1S)
Swiss-ProtVAR_017437Diseasep.ARG619GLYMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_003367Diseasep.ARG383HISMucopolysaccharidosis 1S (MPS1S)
Swiss-ProtVAR_003373Diseasep.ARG489PROMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_003375Diseasep.ARG492PROMucopolysaccharidosis 1S (MPS1S)
Swiss-ProtVAR_020987Diseasep.ARG628PROMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_003355Diseasep.ARG89TRPMucopolysaccharidosis 1S (MPS1S)
Swiss-ProtVAR_020983Diseasep.ASN350ILEMucopolysaccharidosis 1S (MPS1S)
Swiss-ProtVAR_066224Diseasep.ASN348LYSMucopolysaccharidosis 1S (MPS1S)
Swiss-ProtVAR_003362Diseasep.ASP349ASNMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_003360Polymorphismp.ASP315TYRN/A
Swiss-ProtVAR_020982Diseasep.ASP349TYRMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_003366Diseasep.GLN380ARGMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_066218Diseasep.GLU178LYSMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_020978Diseasep.GLU182LYSMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_066222Diseasep.GLU276LYSMucopolysaccharidosis 1S (MPS1S)
Swiss-ProtVAR_003357Polymorphismp.GLY116ARGN/A
Swiss-ProtVAR_066221Diseasep.GLY265ARGMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_003370Diseasep.GLY409ARGMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_066216Diseasep.GLY84ARGMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_020979Diseasep.GLY208ASPMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_003351Diseasep.GLY51ASPMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_066220Diseasep.GLY219GLUMucopolysaccharidosis 1S (MPS1S)
Swiss-ProtVAR_066228Polymorphismp.HIS449ASNN/A
Swiss-ProtVAR_003350Polymorphismp.HIS33GLNN/A
Swiss-ProtVAR_020976Polymorphismp.HIS82GLNN/A
Swiss-ProtVAR_003353Diseasep.HIS82PROMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_017436Diseasep.LEU346ARGMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_020980Diseasep.LEU238GLNMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_066230Diseasep.LEU535PHEMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_003358Diseasep.LEU218PROMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_066226Polymorphismp.LEU396PRON/A
Swiss-ProtVAR_003374Diseasep.LEU490PROMucopolysaccharidosis 1S (MPS1S)
Swiss-ProtVAR_020977Diseasep.MET133ILEMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_003377Diseasep.MET504THRMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_020986Diseasep.PHE602ILEMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_066219Diseasep.PHE188LEUMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_066225Diseasep.PRO385ARGMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_066229Diseasep.PRO496ARGMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_003378Diseasep.PRO533ARGMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_003376Diseasep.PRO496LEUMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_020985Diseasep.SER423ARGMucopolysaccharidosis 1S (MPS1S)
Swiss-ProtVAR_020981Diseasep.SER260PHEMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_003368Diseasep.THR388ARGMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_066217Diseasep.THR103PROMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_003365Diseasep.THR366PROMucopolysaccharidosis 1H (MPS1H)
Swiss-ProtVAR_003379Diseasep.TRP626ARGMucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-ProtVAR_066223Diseasep.TRP306LEUMucopolysaccharidosis 1S (MPS1S)
Swiss-ProtVAR_066215Diseasep.TYR76CYSMucopolysaccharidosis 1S (MPS1S)
Swiss-ProtVAR_003359Polymorphismp.VAL279ALAN/A
dbSNPrs73066479 Polymorphismp.VAL454ILEN/A
OMIM252800.0016 Diseasep.ALA300THRIDUA PSEUDODEFICIENCY
OMIM252800.0015 Diseasep.ARG89GLNHURLER-SCHEIE SYNDROME
OMIM252800.0017 Diseasep.ARG619GLYHURLER-SCHEIE SYNDROME
OMIM252800.0011 Diseasep.ARG492PROSCHEIE SYNDROME
OMIM252800.0010 Diseasep.ARG621TERHURLER SYNDROME
OMIM252800.0007 Diseasep.GLN310TERHURLER SYNDROME
OMIM252800.0002 Diseasep.GLN70TERHURLER SYNDROME
OMIM252800.0005 Diseasep.GLY409ARGHURLER SYNDROME
OMIM252800.0020 Diseasep.LEU346ARGHURLER-SCHEIE SYNDROME||HURLER SYNDROME, INCLUDED
OMIM252800.0012 Diseasep.LEU490PROHURLER-SCHEIE SYNDROME
OMIM252800.0003 Diseasep.PRO533ARGHURLER SYNDROME
OMIM252800.0005 Diseasep.TER654CYSHURLER SYNDROME
OMIM252800.0013 Diseasep.TER654GLYHURLER-SCHEIE SYNDROME
OMIM252800.0018 Diseasep.THR364METHURLER-SCHEIE SYNDROME
OMIM252800.0008 Diseasep.THR366PROHURLER SYNDROME
OMIM252800.0001 Diseasep.TRP402TERHURLER SYNDROME
OMIM252800.0006 Diseasep.TYR64TERHURLER SYNDROME



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