Table 3 Prediction results of 12 variants of SCN5A obtained from SUNDS by three online prediction programs (MutationTaster, PROVEAN/SIFT, Human Splicing Finder)
Exon | Variant | Position | Web-based program | ||
|---|---|---|---|---|---|
MutationTaster | PROVEAN/SIFT | Human Splicing Finder | |||
2 | rs6599230 | c.87A>G g.21452A>G p.Ala29= | Polymorphism | Neutral/tolerated | No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
12 | rs1805124 | c.1674A>G g.50744A>G p.His558Arg | Polymorphism | Neutral/tolerated | No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
17 | rs7430407 | c.3183A>G g.73697A>G p.Glu1061== | Polymorphism | Neutral/tolerated | - New acceptor site* - New ESS site** - ESE site broken*** |
28 | rs1805126 | c.5457 T>C g.103758 T>C p.Asp1819= | Polymorphism | Neutral/tolerated | No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
28 | rs376826051 | c.5712G>A g.104013G>A p.Ser1903= | Disease causing - Protein features (might be) affected - Splice site changes | Neutral/tolerated | - New acceptor site* - New ESS site** - ESE site broken*** |
3′UTR | rs7429945 | c.*123A>G g.104475A>G | Polymorphism | NA | NA |
3′UTR | rs41310757 | c.*753C>T g.105105C>T | Polymorphism | NA | NA |
3′UTR | rs4073797 | c.*962T>A g.105314 T>A | Polymorphism | NA | NA |
3′UTR | rs4073796 | c.*963C>T g.105315C>T | Polymorphism | NA | NA |
3′UTR | rs11414422 | c.*1453_ *1454insA g.105805_ 105806insA | Polymorphism | NA | NA |
3′UTR | rs41315485 | c.*1537T>C g.105889 T>C | Polymorphism | NA | NA |
3′UTR | rs45592631 | c.*2145_ *2146 insGAGA AGAGAG TAGGAA AAAGGA GGG g.106497_106,498 insGAGA AGAGAG TAGGAA AAAGGA GGG | Polymorphism | NA | NA |