Table 4: ESEfinder 3.0 analyses of the wild-type and c.250C>T mutant exon 4 of GUCA1A.

Splicing factor mutationSF2/ASF threshold = 1.956SC35 threshold = 2.383
Position (nt)aMotifScorePosition (nt)aMotifScore

Wild type49CTCAAGG2.21645GGTCCTCA3.059
46GTCCTCAA3.572

GUCA1A-L84F 49 45
46GTCTTCAA3.341

Position of the first nucleotide of an ESE motif counted from the 5′ boundary of exon 4 of GUCA1A.