Fig. 2: Results of valosin-containing protein (VCP) mutation screening.
From: Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
a Two novel heterozygous substitutions were identified (c.376A>G and c.259G>T). b Schematic functional domains and mutations of VCP. The locations of substitutions in this study are denoted by red arrows. Black arrows indicate the locations of previously identified mutations with inclusion body myopathy (IBM). c Multiple alignment of the VCP amino acid sequence in different species. The substitution sites in this study (Val87 and Ile126) are highly evolutionarily conserved. d The crystal structure of VCP protein showing the locations of the mutated residues detected in IBM. The crystal structure was obtained from the Molecular Modeling Database (MMDB ID: 82738). Our substitution sites (Val87 and Ile126) and those of previously reported mutations are indicated in white and yellow, respectively
