Table 3 Functional prediction of 5 identified putative de novo mutations in 3 Brugada syndrome patients without SCN5A mutations or SNPs

From: Disease-Targeted Sequencing of Ion Channel Genes identifies de novo mutations in Patients with Non-Familial Brugada Syndrome

Patient

Gene

Exon

Amino acid change

SIFT

Provean

PolyPhen-2

GERP scoreb

BrS4

SCNN1A

13

p.Arg597*

NAa

Deleterious

NAa

3.42

 

KCNJ16

5

p.Ser261Gly

Damaging

Deleterious

Probably damaging

5.74

BrS15

SCNN1A

6

p.Arg350Gln

Damaging

Deleterious

Probably damaging

4.81

 

KCNB2

3

p.Glu522Lys

Tolerated

Neutral

Probably damaging

5.47

BrS3

KCNT1

29

p.Arg1106Gln

Damaging

Neutral

Probably damaging

4.75

  1. aNo prediction data were available in SIFT and PolyPhen-2 because these algorithms could not predict the functional effect of a stop codon.
  2. bThe GERP score was obtained by –log(P).
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