Illustration from Scientific Research

Membrane topology of ANO4 based on experimental data in the N. haematococca ortholog, drawn using Biorender software. The TMs numbered from 1 to 10 are represented with barrels and located in the plasma membrane. The N-terminal dimerization domain is labeled in turquois. The disease-associated variants are colored according to the phenotype: Asn558Lys (N558K), Ile562Phe (I562F), Met563Lys (M563K) in red with DEE; Asn603Asp (N603D) and Asn129Lys (N129K) in orange with EE; and Val528Met (V528M) and Ile725Thr (I725T) in blue with TLE/GEFS+. The most frequent population variants with deleterious in silico predictions Gly115Ala (G115A), Ala535Thr (A535T), Tyr707Cys (Y707C), and Ala728Thr (A728T) are depicted in gray.

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