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ESEfinder 3.0 analyses of the wild-type and c.250C>T mutant exon 4 of GUCA1A.
| Splicing factor mutation | SF2/ASF threshold = 1.956 | SC35 threshold = 2.383 | ||||
|---|---|---|---|---|---|---|
| Position (nt)a | Motif | Score | Position (nt)a | Motif | Score | |
| Wild type | 49 | CTCAAGG | 2.216 | 45 | GGTCCTCA | 3.059 |
| 46 | GTCCTCAA | 3.572 | ||||
|
| ||||||
| GUCA1A-L84F | 49 | — | — | 45 | — | — |
| 46 | GTCTTCAA | 3.341 | ||||
aPosition of the first nucleotide of an ESE motif counted from the 5′ boundary of exon 4 of GUCA1A.
