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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Characterization of an N-terminal Nav1.5 channel variant – a potential risk factor for arrhythmias and sudden death?

Fig. 3

Nav1.5 S106G results in gain of function. a Typical Na+ currents in HEK293 cells transiently expressing NaV1.5 WT (top) or NaV1.5-S106G mutant (down). Currents were elicited by clamping cells from holding voltage (− 140 mV, 100 mS) to test voltages (between + 50 mV and − 100 mV, 100 ms) and back to post clamp voltage (− 140 mV, 100 ms). b Mean current density/voltage relationships (±SE) from cells transfected with WT (black, n = 9) or S106G mutant (red, n = 8). c Peak currents at − 25 mV from (b) for WT (black) mutant (red) and data from cells co-transfected with WT and S106G mutant (blue, n = 12). d Boltzmann fits of voltage-dependent inactivation (left) and activation (right) for Nav1.5 WT (black/grey) and NavS106G mutant (red/brown). The mutation causes a positive shift in the V1/2 value for inactivation (− 88.2 ± 0.8 mV versus 91.5 ± 1 mV) and a negative shift of the V1/2 value for activation (− 45.3 ± 0.9 mV versus − 39.9 ± 0.8 mV). The P value for a difference between V1/2 values of the WT and mutant < 0.05. Inset: estimated window currents for WT and mutant from (b). The colors of the line correspond to those in (c)

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