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2D representation of pathogenic SCN variants with functional effects. 2D representation of the SCN protein. 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 S5–6 the pore region. Individual missense variants are displayed as different coloured bars. Blue denotes GoF, red LoF and yellow mixed function. Analogue missense pairs are displayed as circles with amino acid details.
