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Results for the Protein: P11488
121032

GNAT1_HUMAN RecName: Full=Guanine nucleotide-binding protein G(t) subunit alpha-1; AltName: Full=Transducin alpha-1 chain

Known Diseases associated with this Protein:
  NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3
  NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3 (CSNBAD3)
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Default View:

G_alpha - smart00275


Swiss-Prot Protein: P11488
Identical to: NP_000163, NP_653082
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009279Diseasep.GLY38ASPNight blindness, congenital stationary, autosomal dominant 3 (CSNBAD3)
OMIM139330.0001 Diseasep.GLY38ASPNIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3



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