R528G (p.Arg528Gly) variant of CACNA1S (Q13698)
R528G (p.Arg528Gly) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypokalemic periodic paralysis, type 1. The record also includes published literature and structural context.
R528G (p.Arg528Gly) variant details
- p.Arg528Gly
- rs80338778
- ClinGen CA004020
- ClinVar RCV000020093
- UniProt VAR 054953
- Pathogenic
- Hypokalemic periodic paralysis, type 1
- Missense
- ClinVar: Pathogenic (Hypokalemic periodic paralysis, type 1)
- EBI: Pathogenic (in HOKPP1)
- UniProt: Pathogenic (in HOKPP1)
- Structural context available
- Cited in: Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (PMID 19118277)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)