Parkinson Disease Mutation Database

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Guo JF, Zhang XW, Nie LL, Zhang HN, Liao B, Li J, Wang L, Yan XX, Tang BS.. Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism. J Neurol Epub: , 2010 (PubMed ID: 20146068)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2dup (breakpoints not mapped)) (ex2-3del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex11del (breakpoints not mapped)) (Gln34fs) (Cys238fs)
PINK1: (ex3-8del (breakpoints not mapped)) (Leu278Val) (Arg407Gln)
PARK7: (ex2del (breakpoints not mapped))

ID: 402


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



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