A common cardiac sodium channel
variant associated with sudden infant death
in African Americans, SCN5A S1103Y
J. Clin. Invest. Leigh D. Plant, et al. 116:430 doi:10.1172/JCI25618 [
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Figure 1A polymorphism in
SCN5A encodes a variant cardiac sodium channel. (
A) Denaturing HPLC waveform and direct sequencing of wild-type and S1103Y variant. The chromatogram shows the additional peak resulting from heteroduplex assembly of S1103 and Y1103 amplicons. Forward sequence of homozygous S1103 and Y1103 SIDS cases shows the C3308A change that leads to the substitution of serine (S) by tyrosine (Y). (
B) Topology of the cardiac sodium channel encoded by
SCN5A shows the cytoplasmic location of the S1103Y missense change (red), the 4 homologous membrane domains (DI–DIV), the pore-forming (P) loops, and the voltage-sensing segments (+).
