Figure 3

Location and conservation analysis of E2F1 R166H. E2F1 genomic location, exon location of c.493 c > Y mutation and results of E2F1 mutation validation and conservation analysis. Top: the chromosomal location of E2F1 and the location of its exons. The exon numbering indicates E2F1 is located on the reverse strand and the c.493C > Y mutation is location on exon 3, which translates to a p.Arg166His residue mutation. E2F1 orthologue conservation analysis was performed using the SNP Analysis function of SNPs3D [15] with the E2F1 mutated protein sequence shown in light blue (bottom left). The arginine-arginine conservation across diverse species is shown with the histidine mutation highlighted in red and its arginine partner highlighted in blue. E2F1 paralogue conservation analysis was performed using CLUSTALW [14] at default settings (bottom right). The E2F1 mutated sequence is shown in light blue and underlined with the histidine mutation shown in red and its partner arginine shown in blue. Again the arginine-arginine conservation across the E2F family is clearly shown.