| Phenotype: | Parkinson disease 8 |
|---|---|
| Dna Change: | c.6055G>A |
| Protein Change: | p.Gly2019Ser |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 41 |
| Transcript: | NM_198578.3 |
| Phenotype: | Parkinson disease 8 |
|---|---|
| Dna Change: | c.4321C>T |
| Protein Change: | p.Arg1441Cys |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 31 |
| Transcript: | NM_198578.3 |
| Phenotype: | Parkinson disease 8 |
|---|---|
| Dna Change: | c.4321C>G |
| Protein Change: | p.Arg1441Gly |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 31 |
| Transcript: | NM_198578.3 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Spain | NA | Basques | 17 patients /276 patients | NA | Simón-Sánchez J et al., 2006Simón-Sánchez J, Martí-Massó JF, Sánchez-Mut JV, Paisán-Ruiz C, Martínez-Gil A, Ruiz-Martínez J, Sáenz A, Singleton AB, López de Munain A, Pérez-Tur J, . Parkinson\\\'s disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.. Mov. Disord.. 2006; 21(11):1954-9 |
Criscuolo C, De Rosa A, Guacci A, Simons EJ, Breedveld GJ, Peluso S, Volpe G, Filla A, Oostra BA, Bonifati V, De Michele G, The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.Mov. Disord.. 2011; 26(9):1733-6
Goldwurm S, Di Fonzo A, Simons EJ, Rohé CF, Zini M, Canesi M, Tesei S, Zecchinelli A, Antonini A, Mariani C, Meucci N, Sacilotto G, Sironi F, Salani G, Ferreira J, Chien HF, Fabrizio E, Vanacore N, Dalla Libera A, Stocchi F, Diroma C, Lamberti P, Sampaio C, Meco G, Barbosa E, Bertoli-Avella AM, Breedveld GJ, Oostra BA, Pezzoli G, Bonifati V, The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.J. Med. Genet.. 2005; 42(11):e65
González-Fernández MC, Lezcano E, Ross OA, Gómez-Esteban JC, Gómez-Busto F, Velasco F, Alvarez-Alvarez M, Rodríguez-Martínez MB, Ciordia R, Zarranz JJ, Farrer MJ, Mata IF, de Pancorbo MM, Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain.Parkinsonism Relat. Disord.. 2007; 13(8):509-15
Lesage S, Janin S, Lohmann E, Leutenegger AL, Leclere L, Viallet F, Pollak P, Durif F, Thobois S, Layet V, Vidailhet M, Agid Y, Dürr A, Brice A, , Bonnet AM, Borg M, Broussolle E, Damier P, Destée A, Martinez M, Penet C, Rasco O, Tison F, Tranchan C, Vérin M, LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.Arch. Neurol.. 2007; 64(3):425-30
Mata IF, Hutter CM, González-Fernández MC, de Pancorbo MM, Lezcano E, Huerta C, Blazquez M, Ribacoba R, Guisasola LM, Salvador C, Gómez-Esteban JC, Zarranz JJ, Infante J, Jankovic J, Deng H, Edwards KL, Alvarez V, Zabetian CP, Lrrk2 R1441G-related Parkinson's disease: evidence of a common founding event in the seventh century in Northern Spain.Neurogenetics. 2009; 10(4):347-53
Mata IF, Taylor JP, Kachergus J, Hulihan M, Huerta C, Lahoz C, Blazquez M, Guisasola LM, Salvador C, Ribacoba R, Martinez C, Farrer M, Alvarez V, LRRK2 R1441G in Spanish patients with Parkinson's disease.Neurosci. Lett.. 2005; 382(3):309-11
Pirkevi C, Lesage S, Condroyer C, Tomiyama H, Hattori N, Ertan S, Brice A, Başak AN, A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype.Neurogenetics. 2009; 10(3):271-3
Simón-Sánchez J, Martí-Massó JF, Sánchez-Mut JV, Paisán-Ruiz C, Martínez-Gil A, Ruiz-Martínez J, Sáenz A, Singleton AB, López de Munain A, Pérez-Tur J, Parkinson\\\'s disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.Mov. Disord.. 2006; 21(11):1954-9
Warren L, Gibson R, Ishihara L, Elango R, Xue Z, Akkari A, Ragone L, Pahwa R, Jankovic J, Nance M, Freeman A, Watts RL, Hentati F, A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.Parkinsonism Relat. Disord.. 2008; 14(1):77-80