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Publications
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Chaudhary S, Behari M, Dihana M, Swaminath PV, Govindappa ST, Jayaram S, Goyal V, Maitra A, Muthane UB, Juyal RC, Thelma BK. Parkin mutations in familial and sporadic Parkinson's disease among Indians. Parkinsonism Relat Disord 12: 239-45, 2006 (PubMed ID: 16500134) |
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PARK2:
(ex2del (breakpoints not mapped))
(ex2dup (breakpoints not mapped))
(ex4dup (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex6dup (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(Ala31Asp)
(Gln34Arg)
(Arg42Cys)
(Arg104Trp)
(Leu272)
(Arg334Cys)
(Ala339)
(Gly359Asp)
(Arg402Cys)
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ID: 387 | |
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Simon-Sanchez J, Scholz S, Matarin Mdel M, Fung HC, Hernandez D, Gibbs JR, Britton A, Hardy J, Singleton A. Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat 29: 315-22, 2008 (PubMed ID: 17994548) |
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PARK2:
(ex2del (breakpoints not mapped))
(ex2dup (breakpoints not mapped))
(ex2-4dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4dup (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex7dup (breakpoints not mapped))
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ID: 277 | |
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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) |
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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)
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ID: 278 | |
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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) |
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SNCA:
(dupSNCA [N])
(IVS2+9A>C)
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ID: 25 | |
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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) |
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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)
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ID: 280 | |
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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) |
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PARK2:
(ex2dup (breakpoints not mapped))
(ex4-7del (breakpoints not mapped))
(Gln34fs)
(Ser167Asn)
(Val380Leu)
(Asp394Asn)
(Arg402Cys)
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ID: 315 | |
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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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Keyser RJ, Lombard D, Veikondis R, Carr J, Bardien S. Analysis of exon dosage using MLPA in South African Parkinson's disease patients. Neurogenetics Epub: , 2009 (PubMed ID: 20013014) |
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SNCA:
(tripSNCA [K])
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ID: 392 | |
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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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