Figure 6. Sequence chromatograms and predicted effects of the splice site mutation. A: Sequence chromatograms of an unaffected individual, a heterozygote carrier, and an affected individual showing the c.465G>T mutation in relation to the exon and consensus splice site, with encoded amino acids shown above the DNA sequence. B: Exon structure of the AIPL1 gene with the c.465G>T mutation shown at the end of exon 3 and the predicted skipping of exon 3 in the spliced mRNA. C: Protein and domain structure of the AIPL1 protein with the predicted in-frame p.(H93_Q155) deletion shown in red.