Non-uniform distribution of splicing mutations across disease genes.

<p><b>A.</b> SSM versus all exonic mutations in the HGMD with regions of 99.9% confidence interval shown in gray. Genes with more, expected, and less SSM are shown in red (Upper), blue (Expected), and green (Lower), respectively. Location of <i>MLH1</i>, <i>MSH2</i>, and <i>PMS2</i> are highlighted and labeled. <b>B.</b> Percent ESM of total mutations tested using MaPSy in each category. <b>C</b>. Due to the inability of MaPSy to observe mutant-specific exon skipping events (as a result of the identical flanking exons), ESMs found in MLH1, BRCA1, and OPA1 were validated as individual wildtype and mutant minigene constructs. All three mutant constructs showed exon skipping events, which were not shown in wildtype constructs.