Figure 1
From: Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
In vitro splicing assays for p.E2496E and p.V382M mutations. Gel electrophoresis shows the different splicing processes for WT minigene and mutants constructions. COS-7 cells transfection experiments were performed in duplicate. Numbers at the bottom of gels indicate the proportion (%) of misspliced transcripts compared to the full-length transcript. For the p.E2496E mutation, an evident increase of band b (corresponding to the aberrant transcript that only contains 37pb of the exon 40) can be observed with regard to the WT minigene expression product. For the p.V382M variant a small increase of the exon 7 skipping in the mutant minigene expression is observed (band d).