Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation

Table 4

List of variants identified in the prevalent arrhythmia-causing genes.

Case

Variation

Presence in databases

Prediction analysis of missense variants

Nucleotide conservation prediction

Grantham Score

Gene

NM_number

Chr

Exon/ intron

Nucleotide change

Effect on protein

Pathogenicity

ClinVar

ExAC

PolyPhen-2

SIFT

Mutation Taster

PhyloP

2095

ANK2

NM_001148.4

4

35

c.4315G>A

p.Gly1439Ser

Likely pathogenic

No

Possibly damaging

Tolerated

Disease causing

2.80

56

6198

KCNH2

NM_000238.3

7

11

c.2681G>A

p.Arg894His

Likely pathogenic

Yes (MAF ≤0.01%)

Probably damaging

Tolerated

Disease causing

2.68

29

1885

KCNH2

NM_000238.4

7

13

c.3052C>G

p.Pro1018Ala

Uncertain significance

RCV000181908.1 (Uncertain significance)

Yes (MAF ≤0.01%)

Benign

Tolerated

Disease causing

1.50

27

1885

SCN1B

NM_001037.4

19

intron 1

c.40+2T>G

Likely pathogenic

No

Specific standard terminologies—“pathogenic”, “likely pathogenic”, “uncertain significance”, “likely benign” and “benign” were used to describe variants identified [28]; range of PhyloP score -20.0;10.0; range of Grantham score 0-215. Abbreviations: ExAC = Exome Aggregation Consortium; MAF = minor allele frequency.