A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation
J. Clin. Invest. Prakash C. Viswanathan, et al. 111:341 doi:10.1172/JCI16879 [
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Figure 1Genotype and ECG phenotype. (a) Pedigree shows affected individuals. Gray boxes represent the polymorphism, H558R, while black boxes represent the T512I mutation. While the father (I-1) was heterozygous for H558R, the mother (I-2) was heterozygous for H558R and T512I. The proband (arrow, II-1) was homozygous for H558R and heterozygous for T512I while his siblings (II-2 and II-3) were heterozygous for H558R. (b) ECG of proband indicating a second-degree conduction block with normal QT and QRS durations. (c) Sequence analysis of SCN5A reveals a change of threonine to isoleucine at position 512 and a change of histidine to arginine at position 558.
