Figure 1:

Mutational landscape of NBEA

Domain organization of the NBEA protein is based on Uniprot. Boxes indicate functional domains; beach type PH (BPH), BEACH domain, and WD-40 repeat domains (lined) are shown. The positions of variants described in our cohort are shown above the protein and those described in other cohorts are shown below. Black circles represent nonsense, frameshift, and splice site variants, and light circles represent missense variants. All variants identified in a person with a NDD are represented with circle, and the variant identified in a control individual is represented with a triangle.