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Results for the Protein: P10523
109940055
SAG

ARRS_HUMAN RecName: Full=S-arrestin; AltName: Full=48 kDa protein; AltName: Full=Retinal S-antigen; Short=S-AG; AltName: Full=Rod photoreceptor arrestin

Known Diseases associated with this Protein:
  OGUCHI DISEASE 1
4
8
4
3
5
Tips:
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Default View:

Arrestin_N - pfam00339
Arrestin_C - pfam02752


Swiss-Prot Protein: P10523
Identical to: NP_000532
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Arrestin_Cpfam027522.4e-45203364

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_008268Polymorphismp.ARG384CYSN/A
Swiss-ProtVAR_008264Polymorphismp.ARG84CYSN/A
dbSNPrs7565275 Polymorphismp.ILE76VALN/A
Swiss-ProtVAR_008266Polymorphismp.PRO364LEUN/A
Swiss-ProtVAR_008265Polymorphismp.THR125METN/A
dbSNPrs1046976 Polymorphismp.VAL403ALAN/A
Swiss-ProtVAR_008267Polymorphismp.VAL378ILEN/A
dbSNPrs1046974 Polymorphismp.VAL403ILEN/A
OMIM181031.0002 Diseasep.ARG193TEROGUCHI DISEASE 1
OMIM181031.0004 Diseasep.ARG292TEROGUCHI DISEASE 1
OMIM181031.0003 Diseasep.ASN309TEROGUCHI DISEASE 1
OMIM181031.0005 Diseasep.GLU306TEROGUCHI DISEASE 1



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