Day 251 (12p11.1-12q12): a Basque Parkinson mutation

fig-1-map-of-northern-spain-published-lrrk2-substitution-frequencies-in-spain-arehttps://www.researchgate.net/figure/6294949_fig1_Fig-1-Map-of-Northern-Spain-Published-Lrrk2-substitution-frequencies-in-Spain-are

Day 251 has only 11 protein-coding genes (browser view), spanning the centromere. It includes LRRK2 (leucine-rich repeat kinase 2) also known as dardarin.

Per the NIH Genetics Home Reference:

A mutation that replaces the amino acid arginine with the amino acid glycine at protein position 1441 (written as Arg1441Gly or R1441G) is a relatively common cause of Parkinson disease in the Basque region between France and Spain. The protein name dardarin comes from the Basque word “dardara,” which means tremor, a characteristic feature of Parkinson disease.

Click here to see all 8329706 letters of Day 251 with the R1441G mutation flashing.

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