Table 2.
Disease mutation distribution by channel region
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% |
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.