Figure 6.

2D representation of SCN variants with functional effects according to single sodium channels. 2D representation of different SCN proteins. The alpha subunit consists of four homologous domains (D1–4) each formed of six transmembrane segments (S1–S6). Segment 4 represents the voltage sensor and segments S5–6 the pore region. Individual missense variants are displayed as different coloured circles. Blue denotes GoF, red LoF, yellow mixed function and purple similar-to-wild-type (STW). Benign variants are illustrated in pale colours.