P221S (p.Pro221Ser) variant of CASR (P41180)
P221S (p.Pro221Ser) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant hypocalcemia. The record also includes published literature and structural context.
P221S (p.Pro221Ser) variant details
- p.Pro221Ser
- rs2473225928
- ClinGen CA354151072
- ClinVar RCV003994928
- UniProt VAR 078158
- Pathogenic
- Autosomal dominant hypocalcemia
- Missense
- ClinVar: Pathogenic (Autosomal dominant hypocalcemia)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available
- Cited in: Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. (PMID 8878438)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)