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.