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. 2023 Apr 12;146(9):3760–3769. doi: 10.1093/brain/awad120

Figure 1.

Figure 1

Lolliplots showing pathogenic and likely pathogenic variants encountered in NEK1, SOD1, FUS, OPTN, TARDBP and TBK1 in cases and controls. Lolliplots showing the mutational spectra of the displayed genes in cases (n = 6013) and controls (n = 2411). For each gene, exons and untranslated regions are represented as grey bars, connected by introns shown as grey lines (reduced with a factor 1/100). Protein domains and motifs are shown as coloured bars. Each lollipop represents a pathogenic or likely pathogenic variant encountered in cases (top) or controls (bottom). The absolute number of cases and controls with the variant is reflected by the height of the lollipop. Known ALS-associated mutations (from ClinVar and the NMHP) are shown as red lines. AXH = ataxin-1/HBP1 domain; CCD1 = coiled-coil domain 1; NMHP = neuromuscular homepage; RRM = RNA recognition motif; ULD = ubiquitin-like domain; UTR = untranslated region.