Fig. 2
From: FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy
Location and conservation of the mutated amino acid. a DNA sequencing chromatograms showing the novel missense mutation in all affected members with the site of mutation marked by an inverted red triangle. b Top: Schematic representation of FBXO32 with the different domains of the protein and the G243R mutation in the F-Box domain. Bottom: multisequence alignment orthologs showing conservation of the mutation (p. G243) across species. c Conservation across the sub-family of human F-Box proteins. The affected amino acid residue is boxed in red. NLS = nuclear localization signals. PD = PDZ domain. LZ = leucine-zipper domain. LCD = leucine-charged residue-rich domain. F-Box = F-Box domain