Fig. 2.

Evaluation of each position in the E47 basic region. (A) Conservation of the basic region and the E555 residue among different species. (B) Allele frequencies and variant types of the E47 basic region in the general population databases. The global cohort (top) and the Japanese cohort (bottom) are based on the Genome Aggregation Database (gnomAD v4.0.0) and the Tohoku Medical Megabank Organization (ToMMo 54KJPN), respectively. (C) Immunoblotting of extracts from human embryonic kidney (HEK) 293T cells transfected with empty vector (EV), E47 wild-type (WT), or alanine variants of the E47 basic region. (D) Luciferase reporter assay to mimic the homozygous state in HEK293T cells transfected with EV, WT, or alanine variants. (E) Luciferase reporter assay to mimic the heterozygous state in HEK293T cells co-transfected with WT and alanine variants. Statistical analysis was performed using one-way analysis of variance (ANOVA) with Dunnett’s post hoc test compared to WT 3.0 ng (*p < 0.05, **p < 0.01, ***p < 0.0001)