Fig. 2.

Effects of the HFM1 variant in vitro. A Detailed map of plasmid construction, including exon 14, intron 14, exon 15, intron 15, exon 16, and the 300 bp base sequence before exon 14 and after exon 16. B The effect of the HFM1 splicing variant c.1730-1G > T. Compared to wild type, agarose gel electrophoresis (red dashed frame) showed a smaller and bigger cDNA fragment for the c.1730-1G > T variant (Fig. 2C-c). A possible scheme (Fig. 2C-a) shows that c.1730-1G > T provided no normal donor site, leading to keeping intron 14 and intron 15. Another kind of possible scheme (Fig. 2C-b) shows that donor c.1730-1G > T provided no normal donor site, leading to the skipping of exon 15 and resulting in premature termination