BioMed Research International / 2018 / Article / Tab 3 / Research Article
Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation Table 3 List of putative pathogenic variations identified in a cohort 94 patients.
Case Patient characteristics Variation Presence in databases Nucleotide conservation prediction Grantham Score Protein domain AF type Dilated LA Gene Chr Exon Nucleotide change Effect on protein Pathogenicity ClinVar ExAC PhyloP 2115 Paroxysmal Yes ABCC8 11 32 c.3941G>A p.Arg1314His Likely pathogenic Yes 3.98 29 ABC transporter type 1, transmembrane domain 6211 Permanent Yes AKAP9 7 46 c.11229G>A p.Met3743Ile Likely pathogenic RCV000310251.1 (Uncertain significance), RCV000171732.1 (Likely benign), RCV000362669.1 (Uncertain significance) Yes 7.99 10 Pericentrin/AKAP-450 centrosomal targeting domain 6198 Permanent Yes DSG2 18 6 c.566C>T p.Pro189Leu Likely pathogenic No 1.50 98 Cadherin; Cadherin-like 2235 Paroxysmal No DSP 6 23 c.3550C>T p.Arg1184Trp Likely pathogenic Yes 3.98 101 4464 Permanent Yes DSP 6 24 c.7997G>A p.Gly2666Asp Likely pathogenic Yes 10.00 94 Plectin repeat 2095 Paroxysmal Yes FHOD3 18 7 c.614T>C p.Leu205Pro Likely pathogenic No 7.99 98 Rho GTPase-binding/formin homology 3 (GBD/FH3) domain; Armadillo-type fold 1885 Paroxysmal Yes FHOD3 18 8 c.776C>T p.Thr259Met Likely pathogenic Yes 7.76 81 Rho GTPase-binding/formin homology 3 (GBD/FH3) domain; Armadillo-type fold 4162 Permanent Yes JPH2 20 2 c.764C>T p.Ser255Leu Likely pathogenic No 9.18 145 Junctophilin 2186 Paroxysmal Yes MMP9 20 3 c.427C>T p.Arg143Cys Likely pathogenic Yes 2.68 180 Peptidase M10, metallopeptidase; Peptidase, metallopeptidase; Peptidase M10A 1875 Paroxysmal No MYOZ1 10 3 c.167G>C p.Gly56Ala Likely pathogenic Yes 7.76 60 Myozenin 2691 Paroxysmal Yes TMEM43 3 5 c.424G>A p.Glu142Lys Likely pathogenic RCV000039386.3 (Uncertain significance), RCV000172593.3 (Likely benign), RCV000250239.1 (Uncertain significance) Yes 8.11 56 Transmembrane protein 43 family
LA volume >32 ml/m
2 or a surface >22 cm
2 ;
specific standard terminologies—“pathogenic”, “likely pathogenic”, “uncertain significance”, “likely benign”, and “benign” were used to describe variants identified (Ref [
28 ]);
range of PhyloP score
-20.0;10.0
range of Grantham score
0-215
Abbreviations: AF = atrial fibrillation; ExAC = Exome Aggregation Consortium; LA= left atrium.
