Fig. 3.

Analysis of the expression pattern of the wild-type and mutant alleles of MYO15A. a, e A schematic representation of the constructs designed for minigene (for c.9083+6T>A) and stable cell line (for c.8340G>A) experiments, respectively. For each experiment two plasmids were prepared, one with the wild-type sequence and second with the investigated variant. b, f Agarose gel electrophoresis of cDNA PCR products prepared from RNA extracted from transfected cell lines. c, g A sequence chromatogram of each isoform detected by gel electrophoresis. d, h The predicted amino acid sequence of the protein that is truncated as a result of alternative splicing. i Schematic representation of the myosin XVA protein [22] shows the location of each predicted truncation due to the splice variants