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Results for the Protein: P30301
266537
MIP

MIP_HUMAN RecName: Full=Lens fiber major intrinsic protein; AltName: Full=Aquaporin-0; AltName: Full=MIP26; Short=MP26

Known Diseases associated with this Protein:
  CATARACT 15, LAMELLAR WITH SUTURAL OPACITIES
  CATARACT 15, MULTIPLE TYPES
  CATARACT 15, MULTIPLE TYPES (CTRCT15)
4
1
2
1
2
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Default View:

GlpF - COG0580
MIP - pfam00230
MIP - cd00333


Swiss-Prot Protein: P30301
Identical to: NP_036196
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MIPcd003333.2e-9611222
MIPpfam002301.9e-1213219

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011497Diseasep.GLU134GLYCataract 15, multiple types (CTRCT15)
Swiss-ProtVAR_011498Diseasep.THR138ARGCataract 15, multiple types (CTRCT15)
dbSNPrs74641138 Polymorphismp.VAL107ILEN/A
OMIM154050.0002 Diseasep.GLU134GLYCATARACT 15, LAMELLAR WITH SUTURAL OPACITIES
OMIM154050.0001 Diseasep.THR138ARGCATARACT 15, MULTIPLE TYPES



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