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 |