pISSN 2234-3806eISSN 2234-3814
Fig. 2.
MYBPC3 exon 14 splicing. (A) Schematic representation of the nucleotide sequences of exon 13, intron 13, and exon 14. Canonical splicing of intron 13 with the juxtaposition of the 3′-exon 13/5′-exon 14 junction is shown above (green lines). The variant c.1224-80G>A (in red) creates a cryptic splice acceptor site in intron 13 (dinucleotide “AG”), which leads to the juxtaposition of 3′-exon 13 with a locus upstream of 5′-exon 14 (bottom, red lines), inserting 78 intronic nucleotides into the transcript. (B) Representation of aligned NGS reads (top) and Sanger electropherogram (bottom) corresponding to the heterozygous variant c.1224-80G>A (arrow).
Abbreviation: NGS, next-generation sequencing.
Abbreviation: NGS, next-generation sequencing.
Ann Lab Med 2025;45:96~100 https://doi.org/10.3343/alm.2024.0201
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