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. 2023 Feb 27;13:3328. doi: 10.1038/s41598-023-29924-y

Figure 1.

Figure 1

Sequence alignment and schemes representation of Kv7 subunits with different mutation locations in Kv7.2 subunits. (a–b) The patients’ BAM (Binary alignment mapping) capture on Golden Helix Genome Browse 3.0.0 which position was de novo missense mutations in reverse strand. The total yield of read depth was 104/85 (Reference/Alternate) for the p.(N258K) variant and 72/33 (Reference/Alternate) for the p.(G279D) variant. (c) Predicted position of missense mutations in the S5-H5 linker and pore loop domain (p.(N258K), p.(G279D)). (d) Alignment of human Kv7 subunits and location of amino acids mutated in the pore loop domain to the beginning of S6 among Kv7.2 subunits. Grey boxes are highly conserved sequences of Kv7 subunits. Yellow boxes are critical sequences of the voltage-gated K + channel subunits.