A70D (p.Ala70Asp) variant of AQP2 (Aquaporin-2)
A70D (p.Ala70Asp) 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.
A70D (p.Ala70Asp) variant details
- p.Ala70Asp
- UniProt VAR 062585
- Pathogenic
- in NDI2
- Missense
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Structural context available
- Cited in: Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus. (PMID 16361827)
- Cited in: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. (PMID 12050236)