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Results for the Protein: NP_006114
5360208
IDS

iduronate 2-sulfatase isoform b precursor [Homo sapiens]

Known Diseases associated with this Protein:
  MUCOPOLYSACCHARIDOSIS TYPE II
4
0
4
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0
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Default View:

AslA - COG3119
Sulfatase - pfam00884


RefSeq Protein: NP_006114
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AslACOG31194.9e-0533340
Sulfatasepfam008846.5e-0837343

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300823.0005 Diseasep.ARG172TERMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0009 Diseasep.LYS135ARGMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0004 Diseasep.PRO160ARGMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0002 Diseasep.SER333LEUMUCOPOLYSACCHARIDOSIS TYPE II



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