FIGURE 1.

Distribution of mutations and phenotypes in the Xia–Gibbs registry among patients with a frameshift or nonsense variant. AT-hook domains, PDZ binding domain, and REV3L/NEXMIF (KIAA2022) conservation regions are shown. Each column in the heatmap represents a patient ranked by the position of the variant carried by the patient. Only frameshift and nonsense variants were included in the analysis. Mutations were classified as N-terminal, mid-protein, and C-terminal based on which one-third of the protein they occurred in, respectively. Each row represents a clinical phenotype from patient surveys with rows labeled in red representing phenotypes occurring in more than 80% of individuals. The phenotypes were ranked by p values of logistic regression tests for associations between the binary outcome and positions of all the variants