Figure 3.

Prediction of splice site changes using MutationTaster with the use of NNSplice database. As can be seen in this figure, due to the mutation in the position of 57634 in gDNA sequence, the lost of donor sequence motif has occurred and an increase for a donor site in position of 57629 has been predicted, and due to these changes, normal splicing may be disturbed. MutationTaster determines the position of splice site change relative to intron/exon borders: if a loss/decrease of a splice site occurs at an intron/exon border or exon/intron border, this will be taken for a “real” splice site change. A gain of a completely new splice site is displayed, if the confidence score of the newly created splice site is > 0.3. An increase in an already existing splice site will be displayed if the change in the confidence score is >10%. All changes are displayed with the effect, genomic position of the splice site, the prediction score for wild-type (wt) and/or mutated (mu) splice site as generated by NNSplice, the (wt) detection sequence itself and very short sequence information about the splice site, with a pipe (|) indicating the border between intron and exon.