Fig. 1

Location of identified DHX30 germline variants. a Highly conserved sequence motifs within the helicase core region are shown with color coding that corresponds to the primary function of the motif (as previously described by Lessel et al., 2017). Double-stranded RNA-binding domains (dsRBD) 1 and 2 at the N-terminus (N-) are shown in gray. A winged helix domain (WHD), a ratchet-like (RL) domain, and an oligosaccharide binding (OB) domain are shown in yellow at the C-terminus (-C). The position of the first and last amino acid within each motif/domain is indicated below. Previously reported heterozygous missense variants and newly identified DHX30 variants are denoted in gray and black, respectively. Frameshift and nonsense variants are denoted in blue. Mutated amino acid residues within the helicase core region are marked in red. The position of previously and newly identified variants are indicated with red arrows. b Genomic region, chr3.hg19:g.(47098509-48109065)del, of the ~ 1 Mb deletion identified in case 24