Parkinson Disease Mutation Database

Home

PDmutDB

Links

About

Publications

Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304: 1158-60, 2004 (PubMed ID: 15087508)

Mutations

PINK1: (IVS1-7A>G) (Gly309Asp) (Arg312) (IVS4-5G>A) (Ala340Thr) (Trp437Stop) (Asn521Thr)

ID: 316

Groen JL, Kawarai T, Toulina A, Rivoiro C, Salehi-Rad S, Sato C, Morgan A, Liang Y, Postuma RB, St George-Hyslop P, Lang AE, Rogaeva E. Genetic association study of PINK1 coding polymorphisms in Parkinson's disease. Neurosci Lett 372: 226-9, 2004 (PubMed ID: 15542245)

Mutations

PINK1: (Leu63) (Ala340Thr) (Asn521Thr)

ID: 351

Clarimón J, Eerola J, Hellström O, Peuralinna T, Tienari PJ, Singleton AB. Assessment of PINK1 (PARK6) polymorphisms in Finnish PD. Neurobiol Aging 27: 906-7, 2006 (PubMed ID: 16046032)

Mutations

PINK1: (IVS1-7A>G) (Ala340Thr) (Asn521Thr)

ID: 330

Tan EK, Yew K, Chua E, Puvan K, Shen H, Lee E, Puong KY, Zhao Y, Pavanni R, Wong MC, Jamora D, de Silva D, Moe KT, Woon FP, Yuen Y, Tan L. PINK1 mutations in sporadic early-onset Parkinson's disease. Mov Disord 21: 789-93, 2006 (PubMed ID: 16482571)

Mutations

PINK1: (Arg246Stop) (Tyr258Stop) (Ala280Thr) (Ala340Thr) (Asn521Thr)

ID: 337

Wang F, Feng X, Ma J, Zou H, Chan P. A common A340T variant in PINK1 gene associated with late-onset Parkinson's disease in Chinese. Neurosci Lett 410: 121-5, 2006 (PubMed ID: 17084972)

Mutations

PINK1: (Ala340Thr)

ID: 339


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



Top |  Back |  PDmutDB Home