Figure 3. Predicted effect of splice donor site mutation c.47+1G>T on mutant BBS1 messenger RNA splicing. A: Wild-type BBS1 and resulting messenger RNA (mRNA) after splicing are shown. B: Mutant BBS1 and inclusion of intron 1 in the mutant mRNA are indicated, which might result in nonsense-mediated decay of the RNA or the
synthesis of a truncated BBS1 protein.