Fig. 2
From: In silico prediction of HBD gene variants in the Iranian population
The predicted splicing effects of p.Ala28Ser (HBD: c.82G>T) (a) and p.Gly30 = (HBD: c.90C>T) (b) variants. The replacement of guanine with thymine at position c.82 activates a cryptic donor splice site (DSS) at c.78. This new splice site is much stronger than the authentic splice site at c.92+1 position (a). The replacement of cytosine with thymine at position c.90 decreases the score for the use of authentic DSS at c.92+1 and instead, creates a new DSS at c.89 position or leads to the use of a cryptic splice site located at c.78 (b). Gold color means exon sequence; yellow color means intron sequence; triangle means splice site