TABLE 2.
SpliceAid2 server estimations
| Variant ID | Wild type form (score) | Mutated type form (score) |
|---|---|---|
| rs4830542 | — | — |
| rs233574 | ETR‐3 (5) | |
| rs1514283 | SF2/ASF (5); SRp40 (5) | |
| rs1514282 | ETR‐3 (5) | |
| rs2074192 | — | — |
| rs4240157 | — | — |
| rs4646176 | hnRNP K (−5) | |
| rs879922 | SC35 (5), DAZAP1 (5), hnRNP A0 (−5), hnRNP A1 (−5), hnRNP A2/B1 (−5), hnRNP D(−5), hnRNP DL (−5) | |
| rs4646155 | SRp20 (5) | Nova−1(5), SLM−2 (−5), Sam68 (−5) |
| rs4646188 | — | — |
| rs2158083 | YB−1 (5) | |
| rs2285666 | hnRNP DL (−5) | |
| rs2106809 | SRp30c (5) | hnRNP H1(−5), hnRNP H2(−5), hnRNP F (−5), hnRNP H3 (−5) |
| rs1978124 | — | — |
According to the scores provided by the server which can vary between −10 and 10: a positive score assigned to a sequence that facilitates exon definition which can be exonic splicing enhancer (ESE) or intronic splicing silencer (ISS). Relatively, a negative score assigned to a sequence that facilitates intron definition which can be exonic splicing silencer (ESS) or intronic splicing enhancer (ISE).