Figure 1.

Translation efficiency of hPMS2 Kozak sequence variants

Bar graph shows the percentage of Renilla/firefly expression normalized to the hPMS2 wild-type (WT) control sequence. Data shown represent three independent transfections measured in technical triplicate (n = 3; ±SEM). ∗p < 0.05, ∗∗p < 0.01, ∗∗∗p < 0.001, ∗∗∗∗p < 0.0001. One-way ANOVA with post hoc Fisher’s least significant difference test compared to the hPMS2 WT control in each experiment. Blue bars indicate the variant is likely benign, and red bars indicate potentially pathogenic variants.