Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans
J. Clin. Invest. Hiroshi Watanabe, et al. 118:2260 doi:10.1172/JCI33891 [Go to this article.]

Figure 2
SCN1B mutations found in patients with Brugada syndrome and conduction disease. (A) Pedigrees and phenotypes of the families affected by Brugada syndrome and/or conduction disease. Individuals carrying the mutation are indicated (+). Individuals who tested negative for the mutation are indicated (–). Individuals I-1 from family 1; and I-1, I-2, and II-3 from family 2 did not undergo genetic testing. Arrows indicate probands. (B) The c.259G→C mutation in SCN1B resulting in p.Glu87Gln found in family 1. (C) Alignment of β1 across species showing the high conservation of Glu87. (D) The c.536G→A (middle) and c.537G→A (right) mutations in exon 3A of β1B, both resulting in p.Trp179X found in families 2 and 3, respectively. (E) Twelve-lead ECG from the proband of family 2 (II-4). The arrowheads indicate ST-segment elevation typical of Brugada syndrome.