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Results for the Protein: NP_001160022
262118210
IDS

iduronate 2-sulfatase isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  MUCOPOLYSACCHARIDOSIS TYPE II
  MUCOPOLYSACCHARIDOSIS TYPE II, MILD FORM
  MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM
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Default View:

AslA - COG3119
Sulfatase - pfam00884




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AslACOG31198.3e-052407
Sulfatasepfam008842.6e-068315

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300823.0013 Diseasep.ARG378GLNMUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM
OMIM300823.0015 Diseasep.ARG378LEUMUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM
OMIM300823.0001 Diseasep.ARG353TERMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0005 Diseasep.ARG82TERMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0012 Diseasep.ARG378TRPMUCOPOLYSACCHARIDOSIS TYPE II, MILD FORM
OMIM300823.0008 Diseasep.CYS332GLYMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0009 Diseasep.LYS45ARGMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0004 Diseasep.PRO70ARGMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0002 Diseasep.SER243LEUMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0003 Diseasep.TRP412SERMUCOPOLYSACCHARIDOSIS TYPE II
OMIM300823.0010 Diseasep.TRP385TERMUCOPOLYSACCHARIDOSIS TYPE II



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