LRRK2 c.4471A>G ;(p.T1491A)

Variant ID: 12-40704386-A-G

NM_198578.3(LRRK2):c.4471A>G;(p.T1491A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Human Mutation
Rubio, Justin P JP; Topp, Simon S; Warren, Liling L; St Jean, Pamela L PL; Wegmann, Daniel D; Kessner, Darren D; Novembre, John J; Shen, Judong J; Fraser, Dana D; Aponte, Jennifer J; Nangle, Keith K; Cardon, Lon R LR; Ehm, Margaret G MG; Chissoe, Stephanie L SL; Whittaker, John C JC; Nelson, Matthew R MR; Mooser, Vincent E VE
Publication Date: 2012-07

Variant appearance in text: LRRK2: 4471A>G; Thr1491Ala
PubMed Link: 22415848
Variant Present in the following documents:
  • Main text
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The Parkinson's disease kinase LRRK2 autophosphorylates its GTPase domain at multiple sites.

Biochemical And Biophysical Research Communications
Greggio, Elisa E; Taymans, Jean-Marc JM; Zhen, Eugene Yuejun EY; Ryder, John J; Vancraenenbroeck, Renée R; Beilina, Alexandra A; Sun, Peng P; Deng, Junpeng J; Jaffe, Howard H; Baekelandt, Veerle V; Merchant, Kalpana K; Cookson, Mark R MR
Publication Date: 2009-11-20

Variant appearance in text: LRRK2: T1491A
PubMed Link: 19733152
Variant Present in the following documents:
  • Main text
View BVdb publication page