Table 1 In silico prediction of the effect of mutations on splice donor (SD) or splice acceptor (SA) sites
Gene | IVS | Mutation | SSF (0–100) | MES (0–16) | NNS (0–1) | GS (0–15) | HSF (0–100) |
|---|---|---|---|---|---|---|---|
MLH1 | 1 | c.117-34A > T | SA:80.80/80.80 | SA:7.22/7.22 | SA:0.86/0.86 | SA:NI/NI | SA:84.10/84.10 |
7 | c.588 + 5G > A | SD:87.56/75.41 | SD:9.72/4.06 | SD:0.97/NI | SD:0.93/NI | SD:88.47/76.30 | |
(-13.9%) | (-58.2%) | (-100%) | (-100%) | (-13.8%) | |||
8 | c.677 + 3A > T | SD:76.78/NI | SD:9.22/3.55 | SD:0.98/NI | SD:NI/NI | SD:84.99/73.21 | |
(-100%) | (-61.5%) | (-100%) | (-13.9%) | ||||
11 | c.1039-8 T > A | SA:95.48/90.38 | SA:7.50/6.74 | SA:0.96/0.79 | SA:7.81/5.23 | SA:88.87/86.88 | |
(-5.3%) | (-10.1%) | (-17.7%) | (-33.0%) | (-2.2%) | |||
15 | c.1732-2A > T | SA:86.24/NI | SA:9.34/NI | SA:0.99/NI | SA:10.34/NI | SA:84.57/NI | |
(-100%) | (-100%) | (-100%) | (-100%) | (-100%) | |||
MSH2 | 7 | c.1276 + 1G > T | SD:81.67/NI | SD:8.92/NI | SD:0.91/NI | SD:0.81/NI | SD:84.70/NI |
(-100%) | (-100%) | (-100%) | (-100%) | (-100%) | |||
10 | c.1662-2A > C | SA:85.11/NI | SA:8.01/NI | SA:NI/NI | SA:NI/NI | SA:86.96/NI | |
(-100%) | (-100%) | (-100%) | |||||
14 | c.2459-18delT | SA:81.50/81.50 | SA:9.97/8.33 | SA:0.95/0.97 | SA:5.06/4.05 | SA:83.23/83.23 | |
(-16.4%) | (+2.1%) | (-20.0%) | |||||
MSH6 | 5 | c.3439-16C > T | SA:85.93/85.93 | SA:10.55/10.32 | SA:0.95/0.96 | SA:8.75/9.12 | SA:89.74/89.74 |
(-2.2%) | (+1.1%) | (+4.2%) |