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Results for the Protein: P53673
2506318

CRBA4_HUMAN RecName: Full=Beta-crystallin A4; AltName: Full=Beta-A4 crystallin

Known Diseases associated with this Protein:
  CATARACT 23
  CATARACT 23 (CTRCT23)
  CATARACT 23, LAMELLAR
4
2
2
1
3
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Default View:

XTALbg - smart00247


Swiss-Prot Protein: P53673
Identical to: NP_001877
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
XTALbgsmart002474.1e-40106194

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_029528Diseasep.LEU69PROCataract 23 (CTRCT23)
Swiss-ProtVAR_029529Diseasep.PHE94SERCataract 23 (CTRCT23)
dbSNPrs4277 Polymorphismp.THR84METN/A
Swiss-ProtVAR_033824Polymorphismp.VAL36METN/A
OMIM123631.0002 Diseasep.LEU69PROCATARACT 23
OMIM123631.0001 Diseasep.PHE94SERCATARACT 23, LAMELLAR



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