Fig. 1.
Clinical characteristics of a BrS family. a. The major pedigree of the BrS family recruited in this study. The arrow indicates the proband. Females are denoted by circles, and males are denoted by squares. Black section indicates arrhythmias such as ventricular tachycardia or fibrillation related to BrS. Yellow section indicates the presence of D356Y variant in SCN5A gene. Green section indicates the presence of type 1 BrS ECG pattern. Red section indicates the presence of minimal changes on precordial leads. b. The representative ECGs from the proband (III-13), proband's brother (III-14), mother (II-12) and father (II-11). c. Sanger verification of missense variant D356Y in SCN5A gene identified by whole exome sequencing in the pedigree. d. Schematic representation of the SCN5A-encoded sodium channel (Nav1.5). D356Y variant locates at domain I pore loop indicated by the red solid circle. e. Amino acid sequence conservation of SCN5A gene from various species in the region surrounding amino acid 356 (highlighted).