Figure 4. Pathogenic mutations and orthologs. The arrows indicate the mutations in the respective pathogenic genes: heterozygous nucleotides
deletion variation c.942_944delGAA in IMPDH1, homozygous single-nucleotide-polymorphic site c.1924T>A in ABCA4, and compound heterozygous single-nucleotide-polymorphic sites c.272A>G and c.196C>T in NMNAT1.The amino acids p.K314, p.F642, p.E91, and p.R66 located in IMPDH1 ABCA4 and NMNAT1 are marked with the column and are highly
conserved among all species shown.