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. 2023 Jul 18;110(8):1394–1413. doi: 10.1016/j.ajhg.2023.06.013

Figure 3.

Figure 3

Location of DHX9 variants

(A) Diagram of DHX9 mRNA shows the location of NDD-associated (white) and CMT-associated (black) variants.

(B) Diagram of DHX9 (UniProt: Q08211) shows functional domains, including dsRBD1 and dsRBD2, the MTAD, helicase domains, HA2, the OB fold, and the RGG box. Protein domains were obtained from UniProt. The sequence of the nuclear localization signal is magnified, and the two key residues (Lys1163 and Arg1166) are underlined. DHX9’s protein-tolerance landscape, calculated by Metadome, is shown at the bottom.