L28P (p.Leu28Pro) variant of AQP2 (Aquaporin-2)
L28P (p.Leu28Pro) in AQP2 (Aquaporin-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NDI2. The record also includes published literature and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- UniProt VAR 015240
- Pathogenic
- in NDI2
- Missense
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Structural context available
- Cited in: Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic… (PMID 12191971)
- Cited in: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. (PMID 12050236)