Hattori N, Kitada T, Matsumine H, Asakawa S, Yamamura Y, Yoshino H, Kobayashi T, Yokochi M, Wang M, Yoritaka A, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann Neurol 44: 935-41, 1998 (PubMed ID: 9851438)

Mutations

PARK2: (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (Ser167Asn) (Gly179fs)

ID: 198

Wang M, Hattori N, Matsumine H, Kobayashi T, Yoshino H, Morioka A, Kitada T, Asakawa S, Minoshima S, Shimizu N, Mizuno Y. Polymorphism in the parkin gene in sporadic Parkinson's disease. Ann Neurol 45: 655-8, 1999 (PubMed ID: 10319889)

Mutations

PARK2: (Ser167Asn) (Arg366Trp) (Val380Leu)

ID: 210

Satoh J, Kuroda Y. Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease. Neuroreport 10: 2735-9, 1999 (PubMed ID: 10511432)

Mutations

PARK2: (Ser167Asn)

ID: 292

Hu CJ, Sung SM, Liu HC, Lee CC, Tsai CH, Chang JG. Polymorphisms of the parkin gene in sporadic Parkinson's disease among Chinese in Taiwan. Eur Neurol 44: 90-3, 2000 (PubMed ID: 10965160)

Mutations

PARK2: (Ser167Asn) (Arg366Trp) (Val380Leu)

ID: 291

Mellick GD, Buchanan DD, Hattori N, Brookes AJ, Mizuno Y, Le Couteur DG, Silburn PA. The parkin gene S/N167 polymorphism in Australian Parkinson's disease patients and controls. Parkinsonism Relat Disord 7: 89-91, 2001 (PubMed ID: 11248588)

Mutations

PARK2: (Ser167Asn)

ID: 217

Oliveri RL, Zappia M, Annesi G, Bosco D, Annesi F, Spadafora P, Pasqua AA, Tomaino C, Nicoletti G, Pirritano D, Labate A, Gambardella A, Logroscino G, Manobianca G, Epifanio A, Morgante L, Savettieri G, Quattrone A. The parkin gene is not involved in late-onset Parkinson's disease. Neurology 57: 359-62, 2001 (PubMed ID: 11468333)

Mutations

PARK2: (Ser167Asn) (Arg366Trp) (Asp394Asn)

ID: 219

Mata IF, Alvarez V, García-Moreira V, Guisasola LM, Ribacoba R, Salvador C, Blázquez M, Sarmiento RG, Lahoz CH, Menes BB, García EC. Single-nucleotide polymorphisms in the promoter region of the PARKIN gene and Parkinson's disease. Neurosci Lett 329: 149-52, 2002 (PubMed ID: 12165399)

Mutations

PARK2: (Ser167Asn) (Asp394Asn)

ID: 307

Eerola J, Launes J, Hellström O, Tienari PJ. Apolipoprotein E (APOE), PARKIN and catechol-O-methyltransferase (COMT) genes and susceptibility to sporadic Parkinson's disease in Finland. Neurosci Lett 330: 296-8, 2002 (PubMed ID: 12270650)

Mutations

PARK2: (Ser167Asn) (Arg366Trp) (Val380Leu)

ID: 289

Foroud T, Uniacke SK, Liu L, Pankratz N, Rudolph A, Halter C, Shults C, Marder K, Conneally PM, Nichols WC; Parkinson Study Group. Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology 60: 796-801, 2003 (PubMed ID: 12629236)

Mutations

PARK2: (ex2-3del (breakpoints not mapped)) (ex2-4dup (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex4-6del (breakpoints not mapped)) (ex5dup (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex7del (breakpoints not mapped)) (ex7dup (breakpoints not mapped)) (ex8del (breakpoints not mapped)) (ex8dup (breakpoints not mapped)) (ex8-9del (breakpoints not mapped)) (ex10del (breakpoints not mapped)) (ex10dup (breakpoints not mapped)) (Gln34fs) (Glu79Stop) (Pro113fs / ex3 Δ40bp) (Ser167Asn) (Met192Val) (Lys211Asn) (Thr240Met) (Arg275Trp) (Ala339) (Pro437Leu)

ID: 390

Oliveira SA, Scott WK, Nance MA, Watts RL, Hubble JP, Koller WC, Lyons KE, Pahwa R, Stern MB, Hiner BC, Jankovic J, Ondo WG, Allen FH Jr, Scott BL, Goetz CG, Small GW, Mastaglia FL, Stajich JM, Zhang F, Booze MW, Reaves JA, Middleton LT, Haines JL, Pericak-Vance MA, Vance JM, Martin ER. Association study of Parkin gene polymorphisms with idiopathic Parkinson disease. Arch Neurol 60: 975-80, 2003 (PubMed ID: 12873854)

Mutations

PARK2: (Ser167Asn) (Val380Leu) (Asp394Asn)

ID: 295

Lücking CB, Chesneau V, Lohmann E, Verpillat P, Dulac C, Bonnet AM, Gasparini F, Agid Y, Dürr A, Brice A. Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. Arch Neurol 60: 1253-6, 2003 (PubMed ID: 12975291)

Mutations

PARK2: (Ser167Asn) (Val380Leu) (Asp394Asn)

ID: 294

Peng R, Gou Y, Yuan Q, Li T, Latsoudis H, Yuan G, Luo D, Liu X, Collier DA. Mutation screening and association analysis of the parkin gene in Parkinson's disease patients from South-West China. Eur Neurol 49: 85-9, 2003 (PubMed ID: 12584415)

Mutations

PARK2: (Ser167Asn)

ID: 242

Sinha R, Racette B, Perlmutter JS, Parsian A. Prevalence of parkin gene mutations and variations in idiopathic Parkinson's disease. Parkinsonism Relat Disord 11: 341-7, 2005 (PubMed ID: 16019250)

Mutations

PARK2: (Ser167Asn) (Arg275Trp) (Arg366Trp) (Asp394Asn)

ID: 309

Li X, Kitami T, Wang M, Mizuno Y, Hattori N. Geographic and ethnic differences in frequencies of two polymorphisms (D/N394 and L/I272) of the parkin gene in sporadic Parkinson's disease. Parkinsonism Relat Disord 11: 485-91, 2005 (PubMed ID: 16269266)

Mutations

PARK2: (Ser167Asn) (Leu272Ile) (Arg366Trp) (Val380Leu) (Asp394Asn)

ID: 255

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

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

Ghione I, Di Fonzo A, Saladino F, Del Bo R, Bresolin N, Comi GP, Rango M. Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease. Neurotoxicology 28: 698-701, 2007 (PubMed ID: 17335904)

Mutations

PARK2: (Ser167Asn) (Val380Leu) (Asp394Asn)

ID: 290

Biswas A, Maulik M, Das SK; Indian Genome Variation Consortium, Ray K, Ray J. Parkin polymorphisms: risk for Parkinson's disease in Indian population. Clin Genet 72: 484-6, 2007 (PubMed ID: 17935510)

Mutations

PARK2: (Ser167Asn) (Val380Leu)

ID: 312

Wu YR, Wu CH, Chao CY, Kuan CC, Zhang WL, Wang CK, Chang CY, Chang YC, Lee-Chen GJ, Chen CM. Genetic analysis of Parkin in early onset Parkinson's disease (PD): Novel intron 9 g > a single nucleotide polymorphism and risk of Taiwanese PD. Am J Med Genet B Neuropsychiatr Genet. Epub: , 2009 (PubMed ID: 19475582)

Mutations

LRRK2: (Gly2385Arg)
PARK2: (ex2-3del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (Ser167Asn) (Arg334Cys) (IVS9-56108G>A) (Val380Leu)

ID: 378

Koziorowski D, Hoffman-Zacharska D, Slawek J, Szirkowiec W, Janik P, Bal J, Friedman A. Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease. Parkinsonism Relat Disord Epub: , 2009 (PubMed ID: 19628420)

Mutations

PARK2: (ex2dup (breakpoints not mapped)) (ex4-7del (breakpoints not mapped)) (Gln34fs) (Ser167Asn) (Val380Leu) (Asp394Asn) (Arg402Cys)

ID: 315

Martínez HR, González-González H, Cantú-Martínez L, Rangel-Guerra R, Hernández-Castillo CD, Vergara-Saavedra JJ, Ramos-Gonzalez MR, Cerda-Flores RM, Morales-Garza MA, Guerrero-Muñoz MJ, Montes-de-Oca-Luna R, Saucedo-Cárdenas O.. PARKIN-coding polymorphisms are not associated with Parkinson's disease in a population from northeastern Mexico. Neurosci Lett 468: 264-6, 2010 (PubMed ID: 19909784)

Mutations

PARK2: (Ser167Asn) (Arg366Trp) (Val380Leu) (Asp394Asn)

ID: 407