L44P (p.Leu44Pro) variant of AVPR2 (Vasopressin V2 receptor)
L44P (p.Leu44Pro) 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.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- UniProt VAR 003517
- Pathogenic
- in NDI1
- Missense
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Structural context available
- Cited in: Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus. (PMID 7999078)
- Cited in: Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic… (PMID 10477431)