Table 2.

Summary of functional analyses of missense variants

DHX30 variant	p.(Gly462Glu), p.(His562Arg), p.(Ala734Asp), p.(Ser737Phe), p.(Thr739Ala), p.(Gly781Asp) p.(Arg782Gln) p.(Arg782Trp), p.(Arg785Cys), p.(Arg785His)	p.(Arg493His)	p.(Arg725His)	p.(Arg908Gln)	p.(Val556Ile)	p.(Glu948Lys)
Location in DHX30	Helicase core motifs I, II, V, or VI (nucleotide-interacting motifs)	Helicase core motif Ia (nucleic acid-binding)	Helicase core region, between motifs IV and V	Ratchet-like domain	Helicase core region, between motifs Ib and II	C-terminal region
gnomAD v2.1.1	Not identified	Not identified	Not identified	Not identified	0/39/282352	1/49/282090
ATPase activity	Reduced	Similar to wt*	Reduced	Reduced	Similar to wt	Similar to wt
RNA binding capacity	n.d.	Reduced*	n.d.	n.d.	n.d.	n.d.
Helicase activity	Reduced**	Reduced	n.d.***	Similar to wt	n.d.	n.d.
Cellular localization	Stress granules	Stress granules	Cytoplasmic, similar to wt	Cytoplasmic aggregates	Cytoplasmic, similar to wt	Cytoplasmic, similar to wt
Puromycin incorporation	Impaired	Impaired*	Similar to wt	Impaired	n.d.	n.d.
Zebrafish development	Impaired**	Impaired	Impaired	Impaired	Similar to wt	Similar to wt

n.d., not determined; *, Lessel et al. 2017; **, only selected variants analyzed; ***, unable to purify the protein