present in Gene: ATP2A1
present in Chromosome: 16
Position on Chromosome: 28902228
Alleles of this Variant: C/G;T
rs121918115 in
ATP2A1 gene and
Brody myopathy
PMID 10914677 2000 The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.