fig3

Figure 3. SET gene structure, protein domains, and mutation locations. (A) Schematic of the SET gene (exons 1-8 shown; exon 2-7 detailed above). Pathogenic variants: novel (this study, red), previously reported (blue), ClinVar - additional (black). Variant types (frameshift, nonsense, etc.) are indicated. (B) SET protein domains (UniProt ID: Q01105): N - terminal (NTD), central acidic (CAD), histone acetyltransferase inhibitor (INHAT). Novel mutations (c.292_294del, p.Thr98del; c.491_494del, p.Pro164LeufsTer15) are marked with orange dots.