Figure 2
From: Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
(a) RFX6 gene structure. Exons are shown in blue with exon numbers underneath. Mutations are shown preceded by a number in brackets which denotes the case in Table 1 to which it refers. (b) RFX6 protein schematic. The DNA-binding domain is shown as a blue box. Amino acid numbering is shown, together with aminoc acid changes due to mis-sense or nonsense mutations. The number in parenthesis preceding each amino acid change denotes the case in Table 1 to which it refers. The mutations in the patients who are the subjects of the present report are the only ones so far reported in any of exons 9–19, all others occurring in exons 1–8, or the intervening introns. A full color version of this figure is available online at the European Journal of Human Genetics website.
