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
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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