Table 2.
In silico splice site predictions for all theoretically possible variants at codon 438
| Splice donor site exon 13 | Splice acceptor site exon 14 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c.1312 | c.1313 | c.1314 | ||||||||||
| Program | NNSplice | MaxEntScan | SSF-like | SpliceAI | NNSplice | MaxEntScan | SSF-like | SpliceAI | NNSplice | MaxEntScan | SSF-like | SpliceAI |
| Score range | [0–1] | [0–12] | [0–100] | [0–1] | [0–1] | [0–16] | [0–100] | [0–1] | [0–1] | [0–16] | [0–100] | [0–1] |
| Threshold | ≥0.4 | ≥0 | ≥70 | ≥0.5 | ≥0.4 | ≥0 | ≥70 | ≥0.5 | ≥0.4 | ≥0 | ≥70 | ≥0.5 |
| A | 0.75 | 4.06 | 75.41 | 1.0 | 10.70 | 94.80 | 0.99 | 8.82 | 94.80 | |||
| (−24.5%) | (−54.3%) | (−13.9%) | 0.78 | (−0.3%) | (−17.5%) | (=) | 0.01 | |||||
| C | 0.87 | 0.44 | 74.2 | 1.0 | 9.58 | 92.95 | 0.99 | 8.95 | 94.80 | |||
| (−13.2%) | (−95.1%) | (−15.2%) | 0.85 | (=) | (−10.4%) | (−1.9%) | 0.0 | (−0.2%) | (−16.3%) | (=) | 0.0 | |
| G | 1.0 | 8.88 | 87.54 | 1.0 | 11.42 | 98.71 | 0.99 | 9.09 | 94.80 | |||
| (=) | (+6.7%) | (+4.1%) | 0.0 | (−0.3%) | (−15.0%) | (=) | 0.01 | |||||
| T | 0.58 | 2.37 | 74.93 | 1.0 | 9.27 | 92.47 | 1.0 | 10.70 | 94.80 | |||
| (−41.5%) | (−73.4%) | (−14.4%) | 0.9 | (=) | (−13.3%) | (−2.5%) | 0.0 | |||||
Table cells for NNSplice, MaxEntScan, and SSF-like contain the scores as well as the relative percentage decrease or increase (in parentheses). SpliceAI predictions are given as Δscores (difference between reference and mutant scores).