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. 2023 Sep 22;14(10):1835. doi: 10.3390/genes14101835

Figure 6.

Figure 6

Effect of the COL17A1:c.769+5G>A variant in case 2 on splicing (a) Sanger electropherograms of the c.769+5G>A variant of case 2 and a control cat. The homozygous single nucleotide exchange at the genomic DNA level is indicated by a black arrow. At the cDNA level, the variant leads to partial aberrant splicing, resulting in the simultaneous expression of wildtype transcript and a mutant transcript with an additional 7 nucleotides derived from the beginning of intron 10. (b) Schematic representation of exons 9, 10, and 11 of the COL17A1 gene and the wildtype and mutant transcripts. The c.769+5G>A variant is indicated at the genomic DNA level by a red arrow. The resulting wildtype and mutant transcripts are displayed.