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. 2023 Aug 30;31(11):1251–1260. doi: 10.1038/s41431-023-01445-2

Fig. 1. Overview of CUX1 variants.

Fig. 1

Location of missense and null variants in CUX1 with respect to the domain structure of CUX1 (GenBank: NM_001202543.2) and CASP (GenBank: NM_001913.4). Variants reported in this cohort are labeled with the corresponding p- or c-code and are indicated by a red circle (missense) or a yellow square (null variant). Variants that affect only CASP are labeled in gray, as the relevance of those variants is uncertain. Confirmed de novo variants are indicated in bold. Lines above the protein scheme indicate null variants in gnomAD with allele count (1 is not shown). Gross deletions and structural variants are indicated as bars below the protein scheme. Abbreviations: CUT: CUT domain, HD: CUT homeobox.