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. Author manuscript; available in PMC: 2010 Apr 2.
Published in final edited form as: Leg Med (Tokyo). 2009 Apr 2;11(Suppl 1):S206–S209. doi: 10.1016/j.legalmed.2009.02.044

Fig. 1.

Fig. 1

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.