AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.

Abstract excerpt

Almost 90% of nephrogenic diabetes insipidus (NDI) is due to mutations in the arginine-vasopressin receptor 2 gene (AVPR2). We retrospectively examined all the published mutations/variants in AVPR2. We planned to perform a comprehensive review of all the AVPR2 mutations/variants and to test whether any amino acid change causing a missense mutation is significantly more or less common than others. We performed a...

Topics

• Amino Acid Sequence
• Codon
• Diabetes Insipidus, Nephrogenic
• Humans
• Molecular Sequence Data
• Mutation
• Mutation, Missense
• Receptors, Vasopressin