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. 2023 Aug 15;9(5):e200093. doi: 10.1212/NXG.0000000000200093

Figure 1. Location of the Novel Mutations in the VCP Gene and Protein.

Figure 1

Scheme of the location of all the variants described in the VCP gene and protein structure. The VCP protein contains 806 amino acids and is constituted by an N-terminal domain involved in the cofactor and ubiquitin-binding function, a D1 domain involved in the assembly of VCP homohexamer, a D2 domain responsible for the major ATPase activity, and the C-terminal domain involved in nuclear localization by interacting with other proteins. The N-domain and D1 domain are connected by N-D1 linker (L1), and the D1and D2 domains are connected by flexible D1-D2 linker (L2). All variants are listed underneath the domain affected; those with an asterisk are considered novel. The black square contains a 3D render of a VCP hexamer. Each subunit is independently colored. The positions of previously reported pathogenic residues are denoted in red and the novel reported variant residues in blue within a single green monomer. VCP = valosin-containing protein.