KEGG   VARIANT: 6622v1
Entry
6622v1                      Variant                                
Name
SNCA mutation
Gene
SNCA  synuclein alpha [KO:K04528]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 163890
Network
nt06028  Dopamine and serotonin metabolism
nt06463  Parkinson disease
nt06466  Pathways of neurodegeneration
nt06534  Unfolded protein response
Disease
H00057  Parkinson disease
Reference
  Authors
Athanassiadou A, Voutsinas G, Psiouri L, Leroy E, Polymeropoulos MH, Ilias A, Maniatis GM, Papapetropoulos T
  Title
Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein.
  Journal
Am J Hum Genet 65:555-8 (1999)
DOI:10.1086/302486
Reference
PMID:9462735
  Authors
Kruger R, Kuhn W, Muller T, Woitalla D, Graeber M, Kosel S, Przuntek H, Epplen JT, Schols L, Riess O
  Title
Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.
  Journal
Nat Genet 18:106-8 (1998)
DOI:10.1038/ng0298-106
Reference
  Authors
Lesage S, Anheim M, Letournel F, Bousset L, Honore A, Rozas N, Pieri L, Madiona K, Durr A, Melki R, Verny C, Brice A
  Title
G51D alpha-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.
  Journal
Ann Neurol 73:459-71 (2013)
DOI:10.1002/ana.23894
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