Fig. 2

The effect of the splice-donor variant c.1167+1G>A in RPL3L on splicing. a Quantification of two forms of RPL3L transcripts; the primary isoform, ENST00000268661, and a novel isoform with skipping of exon 9 resulting from c.1167+1G>A. It also shows the proportion of novel isoform among all transcripts. A total of 167 samples, all from the right atrium, where included in the analysis. Two of those came from carriers of c.1167+1G>A. The figure demonstrates that only the two carriers have the novel isoform with skipping of exon 9. Their exon skipping proportion is ~0.5 while it is zero in non-carriers. b A schematic illustration of the splicing of RPL3L among carriers and non-carriers of c.1167+G>A. The variant is in a splice-donor site by the second last exon and results in exon skipping. The skipped exon is 120 base pairs and therefore its deletion is in-frame