LRRK2
Gene name: leucine-rich repeat kinase 2OMIM ID: 609007
Chromosome location: 12q12
Mutations
| Disease/Phenotype | Parkinson disease 8 |
|---|---|
| Reference transcript | NM_198578.3 |
| DNA Change | c.6055G>A |
| A.A. Change | p.Gly2019Ser |
| Exon/Intron | exon 41 |
| Mutation Type | substitution |
| Reference | Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Durr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, Foroud TM, Farrer MJ, Brice A, Middleton L, Hentati F.Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Arch Neurol. 2006 Sep;63(9):1250-4. |