Fig. 2

Identification of a novel AQP2 variation in affected individuals. Direct DNA sequence analysis of the coding regions of the AQP2 gene in: (a) subject IV-2 and (b) an unaffected control subject. Data from both the sense and anti-sense strands corresponding to genomic region g.4801–4815 within exon 4 of the AQP2 gene are shown (numbers refer to the genomic DNA sequence of the AQP2 gene, GenBank accession number P41181). The affected subject IV-2 is heterozygous for a single base substitution (g.4807C > T) resulting in a double peak in the electropherogram (arrow). The amino acid residues encoded by these sequences are shown above using three-letter abbreviations