Parkinson Disease Mutation Database

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Publications

Macedo MG, Verbaan D, Fang Y, van Rooden SM, Visser M, Anar B, Uras A, Groen JL, Rizzu P, van Hilten JJ, Heutink P. Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease. Mov Disord 24: 196-203, 2009 (PubMed ID: 18973254)

Mutations

LRRK2: (Ser1228Thr)
PARK2: (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex7dup (breakpoints not mapped)) (ex10-12dup (breakpoints not mapped)) (Arg33Gln) (Arg42Pro) (Arg275Trp) (His279) (Leu283Pro) (Arg402Cys)
PINK1: (Met237Val) (Arg492Stop)
PARK7: (ex1-5dup (breakpoints not mapped)) (Pro158del) (Ala179Thr)

ID: 192


Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic



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