Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes
Figure 2
Exonic mutations associated with exon-skipping events.
On the left, semi-quantification of alternative transcripts by QF-PCR on muscle biopsy cDNA. In the centre, schematic representation of the detected transcript species and their relative ratio. On the right, mutation sequence context and predicted ESE motifs: blue bars indicate ESE finder SR protein binding sites; violet bars indicate Rescue-ESE hexamers; red bars indicate PESE octamers. The mutated nucleotide is indicated in red.