Table 1.
Splicing patterns of different transcript isoforms and HSF consensus value of the potential splice‐site
| Mutation | Splicing pattern | HSF consensus value | |
|---|---|---|---|
| Donor | Acceptor | ||
| Wild type | AGTGGAGGAG GGTGTTCCTC |
95.15 | 93.97 |
| Mutant 1 | TTACTTGAAG GGTGTTCCTC |
75.99 | 93.97 |
| Mutant 2 | CAGAGGCTAG TTGTCTTGCT |
69.25 | 77.29 |
TTACTTGAAG GGTGTTCCTC |
75.99 | 93.97 | |
| Mutant 3 | CAGAGGCTAG TTGTCTTGCT |
69.25 | 77.29 |
AATTTAAGTA GGTGTTCCTC |
NA | 93.97 | |
| Mutant 4 | CAGAGGCTAG GGTGTTCCTC |
69.25 | 93.97 |
Exon sequences in wild‐type and mutant tissues are shown in capital letters, with intron sequences in lower case. Acceptor and donor ends are shown in bold, and the corresponding sequence being spliced out is boxed.