Table 1 Overview of LRRK2 amino-acid substitutions that alter disease risk.
Mutation | Domain where mutation is located | Nature of the mutation | Reported prevalence in specific populations |
|---|---|---|---|
A419V | ARM | Increased risk for PD | East Asian |
N551K | ARM | Reduced risk for PD | East Asian, Ashkenazi Jewish, non-Jewish European |
R1398H | ROC | Reduced risk for PD | European, East Asian, Ashkenazi Jewish, non-Jewish European |
N1437H | ROC | Increased risk for PD | European |
R1441C | ROC | Increased risk for PD | European |
R1441G | ROC | Increased risk for PD | European Basque |
R1441H | ROC | Increased risk for PD | European |
R1628P | COR | Increased risk for PD | East Asian |
Y1699C | COR | Increased risk for PD | European |
G2019S | Kinase | Increased risk for PD | European/West Asian, Mixed populations |
I2020T | Kinase | Increased risk for PD | East Asian |
N2081D | Kinase | Increased risk for CD and potentially PD | Ashkenazi Jewish, non-Jewish European |
G2385R | WD40 | Increased risk for PD | East Asian |
M2397T | WD40 | Increased Risk for CD and Leprosy | East Asian, Mixed populations |
