TableĀ 4

In silico analysis of the KCNQ1 c. 1059G>A (p.L353L) variant

Algorithm tool usedPrediction performed by the toolInterpretation of the KCNQ1 gene >ENST00000155840 transcript >exon number: 8, c.1059G>A variation
ESEfinder 3.0ESE finder for SRp40, SC35, SF2/ASF and SRp55 proteinsIdentifies 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 1.0ESE Hexamer finderIdentifies TGAAGG as ESE and predicts the G>A change resulting in enhancer motif sequence disruption
Human Splicing FinderCombines 12 different algorithms to identify and predict mutations' effect on splicing motifsPredicts the alteration of an exonic ESE site leading to potential alteration of splicing
SroogleSplicing regulatory sequences identifierPredicts ESE motifs at the c.1059 position and predicts a loss of ESE site with the G>A change
  • ESE, exon splicing enhancer.