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Table 2 Summary of functional analyses of missense variants

From: Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

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