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Results for the Protein: P26998
311033476

CRBB3_HUMAN RecName: Full=Beta-crystallin B3; AltName: Full=Beta-B3 crystallin; Contains: RecName: Full=Beta-crystallin B3, N-terminally processed

Known Diseases associated with this Protein:
  CATARACT 22 (CTRCT22)
  CATARACT 22, NUCLEAR, AUTOSOMAL RECESSIVE
3
3
1
3
2
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Default View:

XTALbg - smart00247
Crystall - pfam00030


Swiss-Prot Protein: P26998
Identical to: NP_004067
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Crystallpfam000304.6e-3525107
Crystallpfam000303.4e-40115197
XTALbgsmart002472.2e-3625107
XTALbgsmart002471.4e-40115197

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17670506 Polymorphismp.ARG105GLNN/A
Swiss-ProtVAR_025280Diseasep.GLY165ARGCataract 22 (CTRCT22)
dbSNPrs9608378 Polymorphismp.HIS113ASPN/A
Swiss-ProtVAR_070031Diseasep.VAL194GLUCataract 22 (CTRCT22)
dbSNPrs4455261 Polymorphismp.VAL159ILEN/A
OMIM123630.0001 Diseasep.GLY165ARGCATARACT 22, NUCLEAR, AUTOSOMAL RECESSIVE



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