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Results for the Protein: P08842
135006
412
STS

STS_HUMAN RecName: Full=Steryl-sulfatase; AltName: Full=Arylsulfatase C; Short=ASC; AltName: Full=Steroid sulfatase; AltName: Full=Steryl-sulfate sulfohydrolase; Flags: Precursor

Known Diseases associated with this Protein:
  ICHTHYOSIS, X-LINKED
  ICHTHYOSIS, X-LINKED (IXL)
12
0
5
0
7
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Default View:

AslA - COG3119
Sulfatase - pfam00884


Swiss-Prot Protein: P08842
Identical to: NP_000342
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AslACOG31191e-6223535
Sulfatasepfam008841.1e-10127514

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007242Diseasep.CYS446TYRIchthyosis, X-linked (IXL)
Swiss-ProtVAR_014023Diseasep.GLN560PROIchthyosis, X-linked (IXL)
Swiss-ProtVAR_014021Diseasep.GLY380ARGIchthyosis, X-linked (IXL)
Swiss-ProtVAR_014022Diseasep.HIS444ARGIchthyosis, X-linked (IXL)
Swiss-ProtVAR_007240Diseasep.SER341LEUIchthyosis, X-linked (IXL)
Swiss-ProtVAR_007241Diseasep.TRP372ARGIchthyosis, X-linked (IXL)
Swiss-ProtVAR_014020Diseasep.TRP372SERIchthyosis, X-linked (IXL)
OMIM300747.0002 Diseasep.CYS446TYRICHTHYOSIS, X-LINKED
OMIM300747.0005 Diseasep.HIS444ARGICHTHYOSIS, X-LINKED
OMIM300747.0003 Diseasep.SER341LEUICHTHYOSIS, X-LINKED
OMIM300747.0001 Diseasep.TRP372ARGICHTHYOSIS, X-LINKED
OMIM300747.0004 Diseasep.TRP372PROICHTHYOSIS, X-LINKED



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