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Results for the Protein: P01040
118177

CYTA_HUMAN RecName: Full=Cystatin-A; AltName: Full=Cystatin-AS; AltName: Full=Stefin-A; Contains: RecName: Full=Cystatin-A, N-terminally processed

Known Diseases associated with this Protein:
  EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF
  SIEMENS-LIKE
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2
1
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Default View:

CY - smart00043
Cystatin - pfam00031
CY - cd00042


Swiss-Prot Protein: P01040
Identical to: NP_005204
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Cystatinpfam000311.5e-29492
CYsmart000433.8e-19198

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34173813 Polymorphismp.THR96ARGN/A
Swiss-ProtVAR_048851Polymorphismp.THR96METN/A
OMIM184600.0002 Diseasep.GLN86TEREXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF||SIEMENS-LIKE



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