Hedrich K, Marder K, Harris J, Kann M, Lynch T, Meija-Santana H, Pramstaller PP, Schwinger E, Bressman SB, Fahn S, Klein C. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 58: 1239-46, 2002 (PubMed ID: 11971093)

Mutations

PARK2: (ex1del (breakpoints not mapped)) (ex2del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex5dup (breakpoints not mapped)) (c.-21G>T) (Gln34fs) (Arg42Pro) (Asn52fs) (Pro113fs / ex3 Δ40bp) (Met192Leu) (Arg256Cys) (Leu261) (Arg275Trp) (Gly430Asp) (Pro437Leu)

ID: 230

Clark LN, Afridi S, Karlins E, Wang Y, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Ottman R, Marder K. Case-control study of the parkin gene in early-onset Parkinson disease. Arch Neurol 63: 548-52, 2006 (PubMed ID: 16606767)

Mutations

PARK2: (ex3-4del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (c.-21G>T) (Arg42Pro) (Pro113fs / ex3 Δ40bp) (Ser167Asn) (Met192Leu) (Leu261) (Arg275Trp) (Val380Leu) (Asp394Asn)

ID: 288

Wang Y, Clark LN, Louis ED, Mejia-Santana H, Harris J, Cote LJ, Waters C, Andrews H, Ford B, Frucht S, Fahn S, Ottman R, Rabinowitz D, Marder K. Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method. Arch Neurol 65: 467-74, 2008 (PubMed ID: 18413468)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (c.-21G>T) (Asp18Asn) (Arg42Pro) (Pro113fs / ex3 Δ40bp) (Pro153Arg) (Met192Leu) (Cys253Tyr) (Arg275Trp) (Asp280Asn) (Ile298Leu) (Gly319) (Arg366Gln)

ID: 286

Okubadejo N, Britton A, Crews C, Akinyemi R, Hardy J, Singleton A, Bras J. Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. PLoS One 3: e3421, 2008 (PubMed ID: 18927607)

Mutations

PARK2: (Glu16) (Pro37) (Ala46Thr) (Pro153Arg) (Met192Leu) (Leu261) (Gly319) (Arg334His)

ID: 276

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

Bardien S, Keyser R, Yako Y, Lombard D, Carr J. Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease. Parkinsonism Relat Disord 15: 116-21, 2009 (PubMed ID: 18514563)

Mutations

PARK2: (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (Gln34Arg) (IVS2+10C>T) (Met192Leu) (His200Gln) (Cys238) (Asp280Asn) (Glu310Asp) (Arg334Cys) (Asp394Asn) (Arg402Cys) (Arg402) (*16G>A) (*94A>G) (*103C>T)

ID: 279

Nuytemans K, Meeus B, Crosiers D, Brouwers N, Goossens D, Engelborghs S, Pals P, Pickut B, Van den Broeck M, Corsmit E, Cras P, De Deyn PP, Del-Favero J, Van Broeckhoven C, Theuns J. Relative contributions of simple mutations versus copy number variations in five Parkinson disease genes in the Belgian population. Hum Mutat Epub: , 2009 (PubMed ID: 19405094)

Mutations

SNCA: (dupSNCA [N]) (IVS2+9A>C)
LRRK2: (Leu119Pro) (Ala211Val) (Val366Met) (Ala419Val) (Arg506Gln) (Ile1006Met) (IVS30-6C>T) (Arg1514Gln) (Pro1542Ser) (Met1646Thr) (Gly2385Arg) (Glu2490fs)
PARK2: (ex2dup (breakpoints not mapped)) (ex2-3dup (breakpoints not mapped)) (ex2-12dup (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex3-4dup (breakpoints not mapped)) (ex3-6del (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex6dup (breakpoints not mapped)) (Ser10Asn) (Pro37Leu) (Asn52fs) (Ala82Glu) (Met192Leu) (Arg256Cys) (His265Arg) (Asn273Ser) (Arg275Trp) (IVS7-3C>G) (IVS9-1G>A) (Arg402Cys) (Pro437Leu)
PINK1: (Met342Ile)
PARK7: (Lys175Glu) (Ala179Thr)

ID: 25