FIGURE 2

FIGURE 2

Distribution and comparison of pathogenicity of missense mutations in domain of unknown function (DUF) and serine-threonine kinas (STK) domain of microtubule associated serine/threonine kinase 3 (MAST3). (A) Schematic representation of missense variations in MAST3. Variations above and under the protein domain graph are originated from this study and published research, respectively. The colors in the MAST3 protein represented different protein domains (pink: disordered region, blue: DUF domain, yellow: STK domain, and green: PDZ domain). The different colors of the variants showed different diseases (red, ASD; blue, DD). (B) Box plot of CADD of de novo (neurodevelopmental diseases, NDD)/private (GnomAD) missense mutations in DUF or STK domain. Higher CADD scores of missense variants in total and in DUF region of MAST3 were found in NDD cohort compared with that in gnomAD database (p = 0.0003688, 0.0229, Wilcoxon test). Significance was lost when the same analysis was performed for STK domain variants (p = 0.0894, Wilcoxon test).