Table 2.
Sequence and in silico prediction scores for splice sites created by the variants and the activated splice sites.
| Position | Sequence | SSF (0-100) | MaxEnt (0-16) | NNSPLICE (0-1) | GeneSplicer (0-21) | SpliceAI (0-1) | |
|---|---|---|---|---|---|---|---|
| PDHX c.1023+2267A>G | WT | AAG/ATAATAGATT | 0 | 0 | 0 | 0 | NA |
| Variant (DS) | AAG/GTAATAGATT | 81,97 | 8,49 | 0,93 | 3,72 | Δ0,99 | |
| PDHX c.1023+2302A>G | WT | CCC/ATAAGTCTTC | 0 | 0 | 0 | 0 | NA |
| Variant (DS) | CCC/GTAAGTCTTC | 77,77 | 9,09 | 0,98 | 0 | Δ0,94 | |
| PDHX c.1023+2191 | Activated AS | TTTTGAGCAG/CAG | 0 | 5,91 | 0 | 0,8 | NA |
| TPK1 c.185+15054G>A | WT | TCTTTCTTGG/GTA | 0 | 0 | 0 | 0 | NA |
| Variant (AS) | TCTTTCTTAG/GTA | 88,46 | 12,03 | 1,0 | 12,65 | Δ0,99 | |
| TPK1 c.185+15183 | Activated DS | GAG/GTGAAGACCA | 75,41 | 4,41 | 0 | 1,38 | NA |
Abbreviations: AS = acceptor site; DS = donor site; NA = not applicable; SSF = SpliceSiteFinder-like; WT = wild type. The nucleotides changed by the variants are underlined. Reference sequences: RefSeq NM_003477.3 for PDHX and NM_022445.3 for TPK1.