. Author manuscript; available in PMC: 2013 Aug 1.

Published in final edited form as: Pediatr Cardiol. 2012 Mar 30;33(6):943–949. doi: 10.1007/s00246-012-0303-y

Table 1.

List of representative SCN5A mutations that are associated with LQT3 syndrome.

Mutation	Locus in Nav1.5 protein	Biophysical consequences	References
ΔKPQ1505–1507	in the DIII–IV linker	↑late I_Na, defect in inactivation, ↑rate of recovery from inactivation	Ref [8, 54]
F1473C	in the DIII–DIV linker	↑late I_Na, depolarizing shift of the steady state inactivation, speeds the recovery from fast inactivation, uarr; ramp current	Ref [3]
F1473S	in the DIII–DIV linker	↑late I_Na, depolarizing shift of the steady state inactivation	Ref [44]
ΔQKP1507–1509	in the DIII–DIV linker	↑late I_Na, depolarizing shift of the steady state activation	Ref [26]
I1768V	in DIVS6 near the C-terminal end	↑speed of recovery from inactivation, and less slow inactivation	Ref [17]
V411M	in DIS6	↑late I_Na, depolarizing shift of the steady state activation	Ref [20]
L619F	in the DI-DII linker	↑late I_Na, depolarizing shift of the steady state inactivation	Ref [56]