KEGG   VARIANT: 5582v1
Entry
5582v1                      Variant                                

Name
PRKCG inactivating mutation
Gene
PRKCG  protein kinase C gamma [KO:K19663]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation H101Y
ClinVar: 13244
dbSNP: rs121918511
Variation
mutation S119P
ClinVar: 13245
dbSNP: rs121918512
Variation
mutation G128D
ClinVar: 13246
dbSNP: rs121918513
Variation
mutation G118D
ClinVar: 13247
dbSNP: rs121918514
Network
nt06410  Calcium signaling
nt06462  Spinocerebellar ataxia
  Element
N00955  Mutation-inactivated PRKCG to mGluR1-TRPC3 signaling pathway
Reference
  Authors
Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, Matsuda T, Seki T, Sakai N, Saito N
  Title
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.
  Journal
J Biol Chem 283:19854-63 (2008)
DOI:10.1074/jbc.M801492200
Reference
  Authors
Nolte D, Klebe S, Baron R, Deuschl G, Muller U
  Title
Codon 101 of PRKCG, a preferential mutation site in SCA14.
  Journal
Mov Disord 22:1831-2 (2007)
DOI:10.1002/mds.21654
Reference
  Authors
Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH
  Title
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
  Journal
Am J Hum Genet 72:839-49 (2003)
DOI:10.1086/373883
Reference
  Authors
Visser JE, Bloem BR, van de Warrenburg BP
  Title
PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype.
  Journal
Mov Disord 22:1024-6 (2007)
DOI:10.1002/mds.21414
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