Figure 1.

Cohort variants and existing characterization of ZFX

(A) Distribution of cohort variants throughout the ZFX coding sequence, with missense variants in red and truncating variants in blue (numbers indicate the corresponding probands). Evolutionary sequence conservation shown for ZFX across 19 vertebrate species.⁵³ Missense tolerance ratios (MTRs) are calculated from gnomAD v2.0 exomes; dotted line indicates 50^th percentile for MTR.⁵⁴.

(B) Evolutionary Action scores superimposed on a predicted ZFX structure, with residues colored proportional to evolutionary importance.