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Results for the Protein: P55064
1703358
362

AQP5_HUMAN RecName: Full=Aquaporin-5; Short=AQP-5

Known Diseases associated with this Protein:
  KERATODERMA, PALMOPLANTAR, BOTHNIAN TYPE (PPKB)
  PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE
10
0
5
0
5
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Default View:

GlpF - COG0580
MIP - pfam00230
MIP - cd00333


Swiss-Prot Protein: P55064
Identical to: NP_001642
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MIPcd003331.7e-8812224
MIPpfam002304.1e-1024221

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070442Diseasep.ALA38GLUKeratoderma, palmoplantar, Bothnian type (PPKB)
Swiss-ProtVAR_070446Diseasep.ARG188CYSKeratoderma, palmoplantar, Bothnian type (PPKB)
Swiss-ProtVAR_070444Diseasep.ASN123ASPKeratoderma, palmoplantar, Bothnian type (PPKB)
Swiss-ProtVAR_070445Diseasep.ILE177PHEKeratoderma, palmoplantar, Bothnian type (PPKB)
Swiss-ProtVAR_070443Diseasep.ILE45SERKeratoderma, palmoplantar, Bothnian type (PPKB)
OMIM600442.0001 Diseasep.ALA38GLUPALMOPLANTAR KERATODERMA, BOTHNIAN TYPE
OMIM600442.0002 Diseasep.ARG188CYSPALMOPLANTAR KERATODERMA, BOTHNIAN TYPE
OMIM600442.0005 Diseasep.ASN123ASPPALMOPLANTAR KERATODERMA, BOTHNIAN TYPE
OMIM600442.0004 Diseasep.ILE177PHEPALMOPLANTAR KERATODERMA, BOTHNIAN TYPE
OMIM600442.0003 Diseasep.ILE45SERPALMOPLANTAR KERATODERMA, BOTHNIAN TYPE



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