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 [
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Figure 1Structure of β1 and β1B subunits. (
A) Genomic structure of
SCN1B. (
B) Extension of exon 3 (c.208–458) into intron 3 creates a novel 3′ end of the transcript (exon 3A, c.208–978) and generates an alternate transcript encoding β1B. The gray region indicates the unique sequence of exon 3A. (
C) Predicted topology of β1 and β1B. The β1B protein has unique juxtamembrane, transmembrane, and intracellular domains. The arrow indicates the initial amino acid of the β1B-specific segment. Circles indicate the locations of the mutations.