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Publications
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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) |
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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)
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ID: 390 | |
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Wiley J, Lynch T, Lincoln S, Skipper L, Hulihan M, Gosal D, Bisceglio G, Kachergus J, Hardy J, Farrer MJ. Parkinson's disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations.. Mov Disord 19: 677-81, 2004 (PubMed ID: 15197707) |
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PARK2:
(ex2-3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4-5del (breakpoints not mapped))
(Pro113fs / ex3 Δ40bp)
(Arg275Trp)
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ID: 251 | |
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Wu RM, Bounds R, Lincoln S, Hulihan M, Lin CH, Hwu WL, Chen J, Gwinn-Hardy K, Farrer M. Parkin mutations and early-onset parkinsonism in a Taiwanese cohort. Arch Neurol 62: 82-7, 2005 (PubMed ID: 15642853) |
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PARK2:
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(Gly284Arg)
(Arg396Gly)
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ID: 259 | |
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Bertoli-Avella AM, Giroud-Benitez JL, Akyol A, Barbosa E, Schaap O, van der Linde HC, Martignoni E, Lopiano L, Lamberti P, Fincati E, Antonini A, Stocchi F, Montagna P, Squitieri F, Marini P, Abbruzzese G, Fabbrini G, Marconi R, Dalla Libera A, Trianni G, Guidi M, De Gaetano A, Boff Maegawa G, De Leo A, Gallai V, de Rosa G, Vanacore N, Meco G, van Duijn CM, Oostra BA, Heutink P, Bonifati V; Italian Parkinson Genetics Network. Novel parkin mutations detected in patients with early-onset Parkinson's disease. Mov Disord 20: 424-31, 2005 (PubMed ID: 15584030) |
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PARK2:
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex5-6del (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex6-7del (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(ex8-10del (breakpoints not mapped))
(Arg42Pro)
(Arg402Cys)
(Thr415Asn)
(Cys418Arg)
(IVS11-3C>G)
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ID: 252 | |
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Shyu WC, Lin SZ, Chiang MF, Pang CY, Chen SY, Hsin YL, Thajeb P, Lee YJ, Li. Early-onset Parkinson's disease in a Chinese population: 99mTc-TRODAT-1 SPECT, Parkin gene analysis and clinical study. Parkinsonism Relat Disord 11: 173-80, 2005 (PubMed ID: 15823482) |
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PARK2:
(ex1del (breakpoints not mapped))
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(ex10-12del (breakpoints not mapped))
(Cys212Gly)
(Arg256Cys)
(Val258Met)
(Gln311His)
(Gly430Asp)
(Cys441Arg)
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ID: 258 | |
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De Rosa A, Volpe G, Marcantonio L, Santoro L, Brice A, Filla A, Perretti A, De Michele G. Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations.. J Neurol 253: 275-9, 2006 (PubMed ID: 16502212) |
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PARK2:
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex2-4del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
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ID: 297 | |
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Scarciolla O, Brancati F, Valente EM, Ferraris A, De Angelis MV, Valbonesi S, Garavaglia B, Uncini A, Palka G, Stuppia L, Dallapiccola B. Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements. Mov Disord 22: 2274-8, 2007 (PubMed ID: 17914726) |
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PARK2:
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex5-6del (breakpoints not mapped))
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ID: 269 | |
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Lesage S, Lohmann E, Tison F, Durif F, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls. J Med Genet 45: 43-6, 2008 (PubMed ID: 17766365) |
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PARK2:
(ex2del (breakpoints not mapped))
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex2-4dup (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-4dup (breakpoints not mapped))
(ex3-5del (breakpoints not mapped))
(ex3-6del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex4-7del (breakpoints not mapped))
(Gln34fs)
(Asn52fs)
(Ala82Glu)
(Arg256Cys)
(Asn273Ser)
(Arg275Trp)
(Cys289Gly)
(Ile298Ser)
(Gly328Glu)
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ID: 275 | |
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Wickremaratchi MM, Majounie E, Morris HR, Williams NM, Lewis H, Gill SS, Khan S, Heywood P, Hardy J, Wiles CM, Singleton AB, Quinn NP. Parkin-related disease clinically diagnosed as a pallido-pyramidal syndrome. Mov Disord 24: 138-40, 2009 (PubMed ID: 18942080) |
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PARK2:
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
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ID: 282 | |
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Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Marder KS, Foroud T, Nichols WC; Parkinson Study Group-PROGENI Investigators. Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. Neurology 73: 279-86, 2009 (PubMed ID: 19636047) |
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PARK2:
(ex2del (breakpoints not mapped))
(ex2dup (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex2-4dup (breakpoints not mapped))
(ex2-4trip (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-6del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex4dup (breakpoints not mapped))
(ex4-5del (breakpoints not mapped))
(ex4-6del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex5-6del (breakpoints not mapped))
(ex5-8dup (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
(Arg33Gln)
(Gln34fs)
(Asn52fs)
(Glu79Stop)
(Ala82Glu)
(Thr83Ala)
(Pro113fs / ex3 Δ40bp)
(Thr173Met)
(IVS4-9T>A)
(Met192Val)
(Lys211Asn)
(Thr240Met)
(Arg256Cys)
(Arg275Trp)
(Glu310Asp)
(IVS9+1delG)
(IVS9+5G>T)
(Gly430Asp)
(Pro437Leu)
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ID: 412 | |
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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) |
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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)
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ID: 402 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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