Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson's disease
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Updated: Jun 13, 2026

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag
Published on: December 14, 2017
C B Abdalla-Carvalho1, C B Santos-Rebouças, B C Guimarães
1Serviço de Genética Humana, Departamento de Genética, IBRAG, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.
Background And Purpose:
Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been associated with Parkinson's disease (PD), and the majority of the pathogenic variants are located in the ROC and MAPKKK domains.
Methods:
Exons 29-31 and 38-44 (ROC and MAPKKK domains) were sequenced in 204 patients with PD, mostly Brazilian.
Results:
We identified four polymorphisms, a novel silent variant p.R1398R and four substitutions: p.T1410M, p.G2019S, p.Y2189C and the novel variant p.C2139S.
Conclusions:
The most prevalent mutation was the p.G2019S (2.4%). We consider that the p.T1410M and the p.Y2189C variants are probably polymorphisms and that the p.C2139S mutation is potentially pathogenic.
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