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Table 2 Disease mutation distribution by channel region

From: Evolutionary analyses of KCNQ1 and HERG voltage-gated potassium channel sequences reveal location-specific susceptibility and augmented chemical severities of arrhythmogenic mutations

Region HERG KCNQ1
N-term 6% 2%
PAS 21% NA
VSD 9% 11%
ICL 3% 20%
ECL 23% 6%
Pore 23% 29%
C-term 15% 32%
  1. PAS = Per-Arnt-Sim domain in HERG, N-term = N-terminal region used in analysis (excluding PAS domain in HERG), ECL = extracellular linker regions between S1–S2, S3–S4, S5-P loop and P-loop-S6, ICL = intracellular linker regions between S2–S3 and S4–S5, VSD = voltage sensing domain (only transmembrane portions), Pore = pore region including S5, P-loop and S6, C-term = C-terminal portion of channels used in this analysis.