|  |  |  |  | NNSPLICEe | SpliceSite Finderf |  |  |  |  | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Mutationa | Exon | ESEfinderb | Rescue ESEc | PESXd | SA | SD | SA+BPS | SD | GENSCAN Exon P-valueg | Dist. from the nearest SS | Exon size (bp) | Mutation effect on splicing |
hMSH2 | ||||||||||||
A308G | 2 | SRp40 3.05>0 | 0 | 0 | 0.99 | 1 | 170.8 | 85.6 | 0.998(0.998) | -58 | 155 | = |
A593G | 3 | SF2 3.67>2.80 +SRp40 | -2/2 | 0 | 0.98 | 1 | 161.5 | 94.2 | 0.861(0.861) | -52 | 279 | = |
C806T | 5 | SRp55 2.67>0 | -1/1 | +1/0 PESS | 0.96 | 0.92 | NI | 79.9 | 0.987(0.985) | +14 | 150 | ↓ |
C815T | 5 | SF2 3.2>0 SRp55 2.7>0 | 0 | -1/1 PESS | 0.96 | 0.92 | NI | 79.9 | 0.987(0.985) | +23 | 150 | ↓ |
G965A (3) | 6 | SC35 3.39>3.03 SRp40 5.72>3.34 | 0 | +1/0 PESE | 0.98 | 0.98 | 187.8 | 88.7 | 0.999(0.999) | +24 | 134 | = |
G1012A | 6 | SF2 2.2>0 SC35 2.6>0 SRp404.3>0 | +2/5 | -1/1 PESE | 0.98 | 0.98 | 187.8 | 88.7 | 0.999(0.999) | -64 | 134 | = |
G1516T | 10 | SC35 5.44>4.79 + SC35 | 0 | -4/4 PESE | NI | 0.60 | 150.5 | 72.8 | 0.991(0.991) | +6 | 151 | ↓ |
G1571C | 10 | SRp55 3.3>0 + SC35 | 0 | 0 | NI | 0.60 | 150.5 | 72.8 | 0.991(0.991) | +61 | 151 | = |
C1600T | 10 | SRp55 3.4>0 | 0 | +1/0 PESS | NI | 0.60 | 150.5 | 72.8 | 0.991(0.991) | -61 | 151 | ↓ |
hMLH1 | ||||||||||||
G199A (8) | 2 | SF2 4.26>2.34 +1SF2 +1 SC35 | 0 | 0 | 0.86 | 1 | 180.4 | 92.2 | 0.790/0.789 | -8 | 91 | = |
G200A (2) | 2 | SF2 4.26>0 | -1/7 | 0 | 0.86 | 1 | 180.4 | 92.2 | 0.790/0.789 | -7 | 91 | = |
T320G | 4 | SRp55 3.3 >0 + SF2 2.8 | +4/1 | +3/0 PESE | 1 | 0.88 | 155.6 | 69.7 | 0.987/0.990 | +14 | 74 | = |
G731A | 9 | SRp40 3.7>0 | 0 | -3/3 PESS | 0.88 | 0.96 | 156.4 | 78.3 | 0.338/0.205 term | +54 | 113 | = |
C793T (2) | 10 | SRp40 3.85>4.2 | 0 | 0 | 0.99 | 0.93 | 167.8/171 | 81.0 | NI/NI | +4 | 94 | = |
C842T | 10 | SF2 3.2>0 SC35 2.6>0 SRp55 4.7>3.1+SRP55 | 0 | = 1 PESS | 0.99 | 0.93 | 167.8 | 81.0 | NI/NI | -42 | 94 | ↓ |
G1569T | 14 | 0 | -3/3 | 0 | 0.98/0.97 | 0.99 | 182.3 | 85.6 | 0.912/0.976 | +11 | 109 | = |
T1958G | 17 | SF2 2.1= SRp55 3.5>0 + SF2 | 0 | 0 | NI | 0.91 | 166.6 | 90.0 | 0.836/0.877 | -31 | 93 | ↑ |
C1961T | 17 | SF2 2.1>0 SRp55 = +SC35 | 0 | 0 | NI | 0.91 | 166.6 | 90.0 | 0.836/0.828 | -28 | 93 | = |
A1963G | 17 | SF2 2.1> 0 SRp55 3.5>0 | -1/2 | +1/0 PESE | NI | 0.91 | 166.6 | 90.0 | 0.836/0.857 | -26 | 93 | ↑ |
G1976C (3) | 17 | SRp40 4.3>5.15+SC35 | 0 | 0 | NI | 0.91 | 166.6 | 90.0 | 0.836/0.490 | -13 | 93 | ↓ |