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Effect of c.24G>T mutation on calculated exonic splicing enhancer motifs scores.
| SR protein | c.24G | c.24T |
|---|---|---|
| SF2/ASF (1) | Score = 2.02 | 0 |
| SF2/ASF (2) | Score = 4.42 | ↓ Score = 3.75 |
| SF2/ASF (IgM-BRCA1) | Score = 2.758 | ↑ Score = 4.13 |
| SC35 (1) | Score = 2.93 | 0 |
| SC35 (2) | 0 | ↑ Score = 3.54 |
| SRp40 | 0 | Score = 2.88 |
| SRp55 | Score = 3.02 | ↑ Score = 3.83 |
Only motifs distinguishing wild type DNA sequence and the one with mutation c.24G>T, with scores above the thresholds, are presented.
