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Results for the Protein: P02489
1706112

CRYAA_HUMAN RecName: Full=Alpha-crystallin A chain; AltName: Full=Heat shock protein beta-4; Short=HspB4; Contains: RecName: Full=Alpha-crystallin A(1-172); Contains: RecName: Full=Alpha-crystallin A(1-168); Contains: RecName: Full=Alpha-crystallin A(1-162)

Known Diseases associated with this Protein:
  CATARACT 9, AUTOSOMAL RECESSIVE
  CATARACT 9, MULTIPLE TYPES (CTRCT9)
  CATARACT 9, MULTIPLE TYPES, WITH MICROCORNEA
  CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
  CATARACT 9, NUCLEAR
  CATARACT 9, NUCLEAR LAMELLAR
  CATARACT 9, NUCLEAR, WITH MICROCORNEA
  CATARACT 9, TOTAL
  CATARACT 9, TOTAL, WITH MICROCORNEA, AUTOSOMAL RECESSIVE
14
1
9
0
6
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Default View:

Crystallin - pfam00525
ACD_HspB8_like - cd06480
ACD_alphaA-crystalli - cd06497
ACD_HspB1_like - cd06475
ACD_HspB9_like - cd06481
ACD_HspB7_like - cd06479
ACD_HspB2_like - cd06476
HSP20 - pfam00011
metazoan_ACD - cd06526
ACD_sHsps-like - cd06464
ACD_HspB4-5-6 - cd06478
ACD_alphaB-crystalli - cd06498
ACD_HspB3_Like - cd06477
ACD_sHsps_p23-like - cd00298


Swiss-Prot Protein: P02489
Identical to: NP_000385
   Default View:















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ACD_HspB8_likecd064804.2e-1655145
ACD_HspB1_likecd064751.9e-4160145
ACD_alphaA-crystallicd064971.4e-6860145
ACD_HspB2_likecd064761.7e-2462145
ACD_HspB7_likecd064795.1e-0562148
ACD_HspB9_likecd064817.3e-1562145
ACD_sHsps-likecd064644.1e-2263145
ACD_HspB3_Likecd064772.6e-1763145
ACD_HspB4-5-6cd064783.8e-5163145
ACD_alphaB-crystallicd064983.2e-4363146
metazoan_ACDcd065261e-4463145
ACD_sHsps_p23-likecd002981.7e-1564145
Crystallinpfam005251.7e-32155
HSP20pfam000112.4e-4363162

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_003819Diseasep.ARG116CYSCataract 9, multiple types (CTRCT9)
Swiss-ProtVAR_070032Diseasep.ARG12CYSCataract 9, multiple types (CTRCT9)
Swiss-ProtVAR_038375Diseasep.ARG49CYSCataract 9, multiple types (CTRCT9)
Swiss-ProtVAR_046893Diseasep.ARG116HISCataract 9, multiple types (CTRCT9)
Swiss-ProtVAR_046892Diseasep.ARG21LEUCataract 9, multiple types (CTRCT9)
Swiss-ProtVAR_036564Polymorphismp.ASP105HISN/A
OMIM123580.0001 Diseasep.ARG116CYSCATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
OMIM123580.0008 Diseasep.ARG12CYSCATARACT 9, MULTIPLE TYPES, WITH MICROCORNEA
OMIM123580.0003 Diseasep.ARG49CYSCATARACT 9, NUCLEAR
OMIM123580.0006 Diseasep.ARG54CYSCATARACT 9, TOTAL, WITH MICROCORNEA, AUTOSOMAL RECESSIVE
OMIM123580.0010 Diseasep.ARG21GLNCATARACT 9, NUCLEAR LAMELLAR
OMIM123580.0004 123580.0007 Diseasep.ARG116HISCATARACT 9, NUCLEAR, WITH MICROCORNEA
OMIM123580.0009 Diseasep.ARG21TRPCATARACT 9, MULTIPLE TYPES, WITH MICROCORNEA
OMIM123580.0005 Diseasep.GLY98ARGCATARACT 9, TOTAL
OMIM123580.0002 Diseasep.TRP9TERCATARACT 9, AUTOSOMAL RECESSIVE



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