Figure 3
Schematic representation of the region E1C-Intron 1C containing the mutations QO Porto and QO Madrid . The consensus donor splicing sequence is disrupted in both the QOPorto mutation and the QOMadrid mutation. Boxes represent the scores of splicing factors obtained by bioinformatic tools. Several putative binding sites for splicing enhancer elements, SC35, SRp55 or SRp40, were predicted to be affected by these mutations. In the top panel, duplication of T of the QOMadrid variant cause that site for SC35 disappear, and in the bottom panel the QOPorto variant cause a reduction of the score value for the SC35 from 3.48 in the reference sequence to 3.12 in the mutated sequence. WT: wild type sequence.