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. 2017 Oct 23;7:13855. doi: 10.1038/s41598-017-14254-7

Figure 3.

Figure 3

Sequencing results and localization of the mutations in candidate genes. (A) The α2 subunit of the Na+/K+-ATPase encoded by ATP1A2, consists of 10 transmembrane segments (M1-M10) with a large cytoplasmic loop between M4 and M5. The missense mutation (p.Arg196Cys of patient 19) is located in the intracellular loop between M2 and M3. This region is associated with A- (actuator) domain responsible for the binding and hydrolysis of ATP. (B) The α1 subunit of the Na+ channel encoded by SCN1A, has four homologous domains (I-IV), each consisting of six transmembrane segments (S1-S6) and an additional pore loop located between S5 and S6. Two missense mutations (p.Ile1839Ser of patient 22 and p.Leu563Gln of patient 30) are located in the C-terminal domain and the intracellular linker connecting Domain I and II, respectively. (C) Missense mutations of genes associated spinocerebellar ataxia in four patients with episodic ataxia: TTBK2 (exon 15, c.3467 G > A, p.Arg1156Gln in patient 11), TGM6 (exon 10, c.1478 C > T, p.Pro493Leu in patient 12), FGF14 (exon 1, c.31 A > G, p.Thr11Ala in patient 32), KCND3 (exon 4, c.1291 C > T, p.Arg431Cys in patient 33).