Fig. 5
From: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
hnRNP proband variants. Protein structure, known binding motif, number of probands by mutation type, location of variants in each protein, and known associated disorders of NDD hnRNPs are shown. Novel cases are above the protein with published cases below. Red indicates LGD variants and blue represents severe missense variants. RRM: RNA recognition motif; qRRM: quasi-RNA recognition motif; KH: K-homology domain; RGG: Arginine-glycine rich (RGG) box; NLS: nuclear localization sequence. Further details of each variant are shown in Table S7. Adapted from Geuens et al. [83]. a Gene reaches exome-wide significance for all protein-impacting variants by CH model. b Gene reaches exome-wide significance for all protein-impacting variants and LGD variants by CH model. c Gene reaches exome-wide significance for all protein-impacting variants and LGD variants by CH model and denovolyzeR. d Gene reaches significance for missense variant clustering