Genome Sequencing of Idiopathic Speech Delay

Figure 2

Locations of identified variants and an overview of published variants in four genes. Variants identified in this study are visualized above linear protein schematics; the variants previously published as causal for a monogenic neurodevelopmental disorders are visualized below for SETD1A [13, 14, 17, 47], NAA15 [53–55], SPTBN1 [50, 51], and ARF3 [52, 56] and the short and long isoform of CIC [57–60]. Missense variants are indicated in purple and pLoF variants in red. Protein domains are represented with coloured squares: RRM: RNA recognition motif; N-SET: COMPASS (complex proteins associated with Set1p) component N; NKXD: NKXD motif; SET: Su(var)3-9, enhancer-of-zeste, trithorax domain; Post-SET: cysteine-rich motif following a subset of SET domains; SW: switch domain; TPR: tetratricopeptide repeat; CH: calponin homology domain; SPEC: spectrin repeats; PH: Pleckstrin homology domain; HMG: high-mobility group box.