The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation.

@article{Rudenko2012TheGV,
  title={The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation.},
  author={Iakov N. Rudenko and Alice Kaganovich and David N. Hauser and Aleksandra Beylina and Ruth Chia and Jinhui Ding and Dragan Maric and Howard Jaffe and Mark R Cookson},
  journal={The Biochemical journal},
  year={2012},
  volume={446 1},
  pages={99-111}
}
Autosomal-dominant missense mutations in LRRK2 (leucine-rich repeat kinase 2) are a common genetic cause of PD (Parkinson's disease). LRRK2 is a multidomain protein with kinase and GTPase activities. Dominant mutations are found in the domains that have these two enzyme activities, including the common G2019S mutation that increases kinase activity 2-3-fold. However, there is also a genetic variant in some populations, G2385R, that lies in a C-terminal WD40 domain of LRRK2 and acts as a risk… CONTINUE READING
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