Article
Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.
Human mutation - 1 Oct 2009
Kamsteeg Erik-Jan, Stoffels Monique, Tamma Grazia, Konings Irene B M, Deen Peter M T
Abstract excerpt
Regulation of body water homeostasis occurs by the vasopressin-dependent sorting of aquaporin-2 (AQP2) water channels to and from the apical membrane of renal principal cells. Mutations in AQP2 cause autosomal nephrogenic diabetes insipidus (NDI), a disease that renders the kidney unresponsive to vasopressin, resulting in polyuria and polydipsia. The AQP2 mutant c.772G>A; p.Glu258Lys (AQP2-E258K) causes dominant...
Topics
- Amino Acid Sequence
- Aquaporin 2
- Arginine
- Cell Compartmentation
- Diabetes Insipidus, Nephrogenic
- Glycine
- Humans
- Immunohistochemistry
- Lysine
- Molecular Sequence Data
- Mutation