Table 3 of
Rothschild, Mol Vis 2013; 19:2040-2049. Table 3 of
Rothschild, Mol Vis 2013; 19:2040-2049.
Table 3. In silico analyses of published VCAN splice-site mutations.
| Sequence and Reference | Position | Function | Experimental mRNA confirmation | Human Splicing Finder1 | MaxEnt Scan2 | NNSplice3 | NetGene24 | ESEfinder5 |
|---|---|---|---|---|---|---|---|---|
| Reference NG_012682 | intron 7/exon8 | Acceptor | 94 | 9.88 | 0.99 | 0.97 | 12.23 | |
| c.4004 −1 G>C [12] | intron 7/exon8 | Acceptor | Yes | 65.05 | 1.82 | - | - | - |
| c.4004 −1 G>A [10,11] | intron 7/exon8 | Acceptor | Yes | 65.05 | 1.13 | - | - | - |
| c.4004 −2 A>G [3] | intron 7/exon8 | Acceptor | Yes | 65.05 | 1.93 | - | - | - |
| c.4004 −2 A>T [4] | intron 7/exon8 | Acceptor | Yes | 65.05 | 1.52 | - | - | - |
| c.4004 −5 T>C [10] | intron 7/exon8 | Acceptor | Yes | 93.11 | 8.14 | 0.99 | 0.94 | 11.8 |
| c.4004 −5 T>A [10] | intron 7/exon8 | Acceptor | Yes | 90.44 | 7.7 | 0.97 | 0.83 | 9.69 |
| c.4004 −6 T>A This study | intron 7/exon8 | Acceptor | No | 91.23 | 7.83 | 0.95 | 0.43 | 9.77 |
| Reference NG_012682 | exon8/intron8 | Donor | 97.66 | 10.77 | 1 | 1 | 10.47 | |
| c.9265 +1 G>T [8] | exon8/intron8 | Donor | No | 70.83 | 2.26 | - | - | - |
| c.9265 +1 G>A [5,7,13] | exon8/intron8 | Donor | Yes | 70.83 | 2.58 | - | - | - |
| c.9265 +2 T>A [12] | exon8/intron8 | Donor | Yes | 70.83 | 2.58 | - | - | - |