Skip to main content
. 2021 Jun 28;108(8):1450–1465. doi: 10.1016/j.ajhg.2021.06.003

Figure 3.

Figure 3

Functional expression of CLCN3 variants

(A) Voltage protocol and typical current traces obtained for WT and indicated variants in Xenopus oocytes. Linear leak and capacitance were subtracted using a P/n protocol. Traces have been clipped to hide the residual capacitative artifact.

(B) Voltage protocol and typical current traces obtained for WT and variant p.Ile607Thr in HEK293 cells.

(C) Average normalized current-voltage relationship measured in oocytes, normalized to WT currents at 170 mV (see Subjects and methods). For variant p.Ile607Thr values are significantly different from WT for V ≥ 120 mV (p < 0.05, Student’s t test). All other values are not significantly different from WT (p > 0.05, Student’s t test).

(D) Average current-density voltage relationship of WT and variant p.Ile607Thr measured in HEK293 cells. p.Ile607Thr values are significantly different from WT for V ≥ 0 mV (p < 0.05, Mann-Whitney U test).

(E) Average ratio of mutant versus WT currents in Xenopus oocytes (see Subjects and methods). For variants p.Ala413Val and p.Val772Ala, the ratio is close to 1 at all voltages, indicating similar rectification properties compared to WT. In contrast, for p.Thr570Ile and p.Ile607Thr the ratio is voltage dependent, becoming smaller at more positive voltages, indicating that rectification is shallower compared to WT. All error bars indicate SEM.