Figure 1

Identification of the P1308L substitution in Na _V 1.7 in a family with IEM. A, The family pedigree of the proband carrying P1308L mutation. Circles denote females; squares denote males. The proband is indicated by an arrow. Blue symbols indicate subjects affected with IEM. A (+) symbol denotes subjects heterozygous for the P1308L mutation in exon 21 and a (-) symbol denotes subjects without the mutation. B, Schematic of the topology of sodium channel and sequence alignment of DIII/S4-S5 linker of human sodium channels. The location of P1308L is indicated with blue symbol (filled blue circle), and sites of V1298F and V1299F are indicated with green and magenta symbols (filled green circle and filled pink circle), respectively. Sequence alignment revealed that both P1308 and V1298 are highly conserved among human voltage-gated sodium channels.