Figure 4.

Percentages of remaining normal ABCA4 transcripts due to noncanonical splice site variants based on capillary electrophoresis system analyses. The percentages of normal ABCA4 transcript for 45 noncanonical splice site variants are represented by black bars. Nineteen variants showed varying fractions (4.3%–100%) of correct ABCA4 mRNA. Four of them also result in missense changes as depicted, but only p.(Ser1545Asn) and p.(Lys2160Glu) are likely to have an effect on protein function, as significant amounts of ABCA4 protein will be produced. For the remaining 26 variants (in the square box), no residual RNA was observed. (#) For this variant, densitometric scanning was performed.