In silico analysis of the KCNQ1 c. 1059G>A (p.L353L) variant
| Algorithm tool used | Prediction performed by the tool | Interpretation of the KCNQ1 gene >ENST00000155840 transcript >exon number: 8, c.1059G>A variation |
|---|---|---|
| ESEfinder 3.0 | ESE finder for SRp40, SC35, SF2/ASF and SRp55 proteins | Identifies CTGAAGG as ESE. Predicts the G>A change in this motif to result in splicing regulatory protein binding from SF2/ASF to SRp40 |
| RESCUE-ESE 1.0 | ESE Hexamer finder | Identifies TGAAGG as ESE and predicts the G>A change resulting in enhancer motif sequence disruption |
| Human Splicing Finder | Combines 12 different algorithms to identify and predict mutations' effect on splicing motifs | Predicts the alteration of an exonic ESE site leading to potential alteration of splicing |
| Sroogle | Splicing regulatory sequences identifier | Predicts ESE motifs at the c.1059 position and predicts a loss of ESE site with the G>A change |
ESE, exon splicing enhancer.