Table 3.
Predicted ratios of exonic and intronic splicing mutations
| Position | −3 | −2 | −1 | +1 | +2 | +3 | +4 | +5 | +6 |
|---|---|---|---|---|---|---|---|---|---|
| Complementary nucleotide | C | A | G | G | T | A | A | G | T |
| A | 1.8 | – | 93.7 | – | – | – | – | 93.9 | 56.9 |
| C | – | 89.6 | 99.7 | – | – | 99.9 | 94.4 | 98.6 | 75.4 |
| G | 35.0 | 90.5 | – | – | – | 48.7 | 96.2 | – | 56.7 |
| T | 76.7 | 86.2 | 97.1 | – | – | 99.9 | 94.3 | 97.0 | – |
| All mutations | 37.8 | 88.8 | 96.8 | – | – | 82.8 | 95.0 | 96.5 | 63.0 |
Numbers indicate the percentages of generating splicing mutations according to the SD-Score algorithm. The mutations are weighed by the number of occurrences of the native 5′ splice site. For example, the CAG|GTGAGG sequence, which is observed at 2562 splice sites in the human genome, has a SD-Score of −1.868. A C-to-T mutation at position −3 should generate TAG|GTGAGG, which is observed at 145 splice sites and has a SD-Score of −3.116. The ΔSD-Score of the mutation is thus −1.247. This mutation is predicted to cause aberrant splicing and is counted as 2562 mutations instead of one, because the chance that this mutation occurs should be higher than those of rare 5′ splice sites. Only mutations that substitute an NCp-nuc for a Cp-nuc are considered in this analysis, and 2 466 918 mutations have been simulated.