Figure 4.

Illustration of the genomic structure of PAX2 from chromosome 10q24 covering nucleotides 102 505 468–102 589 697 (hg19 assembly). Exons 2, 3 and part of 4 (green) encode the paired domain of the PAX2 protein illustrated below. The octapeptide domain (pink), truncated homeodomain (purple) and transactivation domain (orange) are indicated. Published mutations are noted by arrows over their corresponding exons. The asterisk denotes the recurrent mutation c.76dup. Mutation notation has been updated from original publications. Each mutation has been reported for the first time in the following references: 2, 4, 5, 12, 13, 14, 15, 16, 20, 21, 22, 23, 24, 25, 27, 30, 37, 38, 52. This figure is not drawn to scale.