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Table 1 Information of the identified nucleotide variations of the genes in the proband of the pedigree

From: Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

Gene

NM/NP

Variant

Type

RS

Location

In silico assessments

Frequency (allele count)

Polyphen2

Mutation taster

Provean

Sift

Clin Var

Iranome

Allel

frequency

gnomAD

1000

Genome

DTNA

NM_001198943.1

NP_001185872.1

c.G681C

p.E227D

Het

rs1477078144

Chr 18q12.1

Exon6

Probably damaging

Disease causing

Neutral

Deleterious

NA

0

0

0

NEBL

NM_006393.3

NP_006384.1

c.T298C

p.S100P

Het

-

Chr 10p12.31

Exon3

-

Disease causing

Deleterious

NA

0

0

0

SCN5A

NM_001099404.2

NP_001092874.1

c.A1673G p.H558R

Het

rs1805124

Chr3p22.2

Exon12

Benign

Polymorphism

Neutral

With Pathogenic

allele

1600

3143

Het 20,427

151

Het 852