L43P (p.Leu43Pro) variant of AVPR2 (Vasopressin V2 receptor)
L43P (p.Leu43Pro) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NDI1. The record also includes published literature and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- UniProt VAR 015297
- Pathogenic
- in NDI1
- Missense
- 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)