R254Q (p.Arg254Gln) variant of AQP2 (Aquaporin-2)
R254Q (p.Arg254Gln) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrogenic diabetes insipidus. The record also includes published literature and structural context.
R254Q (p.Arg254Gln) variant details
- p.Arg254Gln
- UniProt VAR 062590
- Likely pathogenic
- Nephrogenic diabetes insipidus
- Missense
- ClinVar: Likely pathogenic (Nephrogenic diabetes insipidus)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Structural context available
- Cited in: p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of… (PMID 19585583)
- Cited in: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. (PMID 12050236)