Table 1.
Impact of the c.4723A > T mutation on exonic splicing silencer (ESS) and exonic splicing enhancer (ESE) motifs within the CEP290 exon 36.
| Nucleotide | EX-SKIP Predictions | HOT-SKIP Predictions | Skipping Predictions of Mutant Allele Compared to WT Allele | |||||
|---|---|---|---|---|---|---|---|---|
| ESS | ESE | ESS/ESE | ESS | ESE | ESS/ESE | |||
| c.4723 (exon 36) | A | 12 | 88 | 0.14 | 2 | 17 | 0.12 | - |
| T | 19 | 75 | 0.25 | 9 | 4 | 2.25 | Higher chance | |
| G | 13 | 87 | 0.15 | 3 | 16 | 0.19 | Higher chance | |
| C | 11 | 82 | 0.13 | 1 | 11 | 0.09 | Lower chance | |
Nucleotide change effect at position c.4723 on ESS and ESE motifs according to EX-SKIP and HOT-SKIP prediction programs. The wild-type (WT) and mutant alleles identified in this study are marked in italic and bold, respectively. ESS = Exonic splicing silencer; ESE = Exonic splicing enhancer.