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. 2017 Aug 22;7:9146. doi: 10.1038/s41598-017-09629-9

Figure 5.

Figure 5

p.Ile38Ser mutation induces mild deterioration of protein function. (a–c) Representative traces of HEK293T cells transiently transfected with wild type (WT) BEST1 plus either p.Ile38Ser (a), p.Ala195Val (b), or p.Trp93Cys (c). (d) Current-voltage relationship of mock, WT, and co-transfection of WT and mutant BEST1. (e) The mean outward chord conductance (Gchord) in transfected HEK293T cells, calculated over 0 mV to +100 mV. Co-expression of WT and p.Ile38Ser BEST1 results into approximately one-third of the currents of WT BEST1, while p.Trp93Cys generated very small currents. The p.Ala195Val mutant, an autosomal recessive type, elicited large currents when co-expressed with WT BEST1. Data are presented as mean ± SEM. (Conductance values are provided in Supplementary Table S2. WT vs. WT + p.Ile38Ser, p < 0.01; WT + p.Ile38Ser vs. WT + p.Ala195Val, p < 0.001; WT + p.Ile38Ser vs. WT + p.Trp93Cys, p < 0.01 by ANOVA followed by Newman-Keuls multiple comparison test, details are provided in Supplementary Table S2).