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Table 3 Prediction results of 12 variants of SCN5A obtained from SUNDS by three online prediction programs (MutationTaster, PROVEAN/SIFT, Human Splicing Finder)

From: Association between SCN5A and sudden unexplained nocturnal death syndrome in Thai decedents: a case–control study

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
  1. NA not available
  2. *Activation of an exonic cryptic acceptor site, with presence of one or more cryptic branch point(s)
  3. **Creation of an exonic splicing silencer site (ESS site)
  4. ***Alteration of an exonic splicing enhancer site (ESE site)