Kay DM, Moran D, Moses L, Poorkaj P, Zabetian CP, Nutt J, Factor SA, Yu CE, Montimurro JS, Keefe RG, Schellenberg GD, Payami H. Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. Ann Neurol 61: 47-54, 2007 (PubMed ID: 17187375)

Mutations

PARK2: (c.-53C>T) (c.-44C>A) (Ala82Glu) (Ser167Asn) (Thr173Met) (Leu174) (Thr177) (Val244Ile) (Ser255) (Leu307) (Val380Leu) (Asp394Asn) (Arg402Cys) (Pro437Leu)

ID: 285

Sironi F, Primignani P, Zini M, Tunesi S, Ruffmann C, Ricca S, Brambilla T, Antonini A, Tesei S, Canesi M, Zecchinelli A, Mariani C, Meucci N, Sacilotto G, Cilia R, Isaias IU, Garavaglia B, Ghezzi D, Travi M, Decarli A, Coviello DA, Pezzoli G, Goldwurm S. Parkin analysis in early onset Parkinson's disease. Parkinsonism Relat Disord 14: 326-33, 2008 (PubMed ID: 18519021)

Mutations

PARK2: (ex2dup (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex3-5del (breakpoints not mapped)) (ex5-6del (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex6-7del (breakpoints not mapped)) (Arg42Pro) (Ala82Glu) (Met192Leu) (Cys212fs) (Ala230Thr) (Cys238Trp) (Thr240Met) (Cys253Tyr) (Arg275Trp) (Leu307) (Arg402Cys) (Glu409Stop) (*94A>G) (*94_95delinsGCGC)

ID: 278

Brüggemann N, Mitterer M, Lanthaler AJ, Djarmati A, Hagenah J, Wiegers K, Winkler S, Pawlack H, Lohnau T, Pramstaller PP, Klein C, Lohmann K. Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers. Parkinsonism Relat Disord 15: 425-9, 2009 (PubMed ID: 19162522)

Mutations

PARK2: (ex2dup (breakpoints not mapped)) (ex2-4dup (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex7del (breakpoints not mapped)) (c.-39G>T) (c.-21G>T) (Gln34fs) (Leu261) (Arg275Trp) (Leu307) (Val324fs) (Arg402Cys) (Gly429Glu) (Met458Leu)

ID: 280