Fig. 3

Detailed analysis of the studied variants. a-f—schemes of the genomic loci incorporated into minigene vectors and visualization of minigene-specific splicing products are shown for each variant. The mean amounts of transcript isoforms from three biological replicates are quantified by fragment analysis and are shown as percentages of all isoforms (an isoform is shown if it constitutes more than 5%). For the c.422 + 933G > T and the c.423–862 variants, the electropherograms are also shown to better represent all of the isoforms (the height of the fluorescence peak reflects the quantity of the isoform). EX V1 and EX V2 – two constitutively spliced exons of the minigene vector. Asterisks indicate splice sites with their relative strength (MaxEntScan score) and polyadenylation signal—pA