P322S (p.Pro322Ser) variant of AVPR2 (Vasopressin V2 receptor)
P322S (p.Pro322Ser) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes insipidus, nephrogenic, X-linked. The record also includes published literature and structural context.
P322S (p.Pro322Ser) variant details
- p.Pro322Ser
- UniProt VAR 015354
- Pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- ClinVar: Pathogenic (Diabetes insipidus, nephrogenic, X-linked)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Structural context available
- Cited in: Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes… (PMID 9402087)
- Cited in: Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic… (PMID 10477431)