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. Author manuscript; available in PMC: 2008 Aug 1.
Published in final edited form as: Heart Rhythm. 2007 Apr 10;4(8):1072–1080. doi: 10.1016/j.hrthm.2007.03.040

Figure 2.

Figure 2

Genetic analysis of patient MMRL23. A: PCR-based sequence of SCN5A exon 10 showing wild-type (WT) and G to C transversion at nucleotide 1199 (arrow) in patient MMRL23. The mutation predicts a substitution of Ala (GCG) for Gly (GGG) at position 400 (G400A). B: Location of the G400A mutation and H558R polymorphism are indicated using the conventional transmembrane topology model. C: Alignment of the voltage-gated sodium channel α-subunit family amino acid sequence, with related sequence shows that G400 is highly conserved among different sodium channels and different species. Dashes indicate identical residues to human SCN5A channel.