Function-conservation relationship of natural occurring missense mutations in V2R.

More than 113 missense mutations at 90 positions within the human V2R have been described (see Figure 2). About 91% of all V2R missense variants identified so far are NDI causing. The table gives a correlation between the functional consequence of individual mutations and the evolutionary conservation of the mutated position. The complete list of missense mutations included in the analysis and the references are given in Supporting Material Table S3. The evolutionary conservation of each mutated position was determined by aligning V2R orthologs available and the variability of the position was categorized in three groups from no variation (1 amino acid) to high variation (>2 amino acids) in mammalian orthologs.