Fig. 5.

Desmoplakin structures and locations of ARVC mutations. Crystal structures of desmoplakin (a) SRs 3-6 (PDB code: 3R6N), (b) PRD-B (PDB code: 1LM7), and (c) PRD-C (PDB code: 1LM5) are depicted as ribbon diagrams. Point mutations that are known to be pathogenic are shown as either copper (buried) or green (surface exposed). For PRDs B and C, electrostatic potential maps are also shown with blue and red representing positively and negatively charged groups, respectively. Both PRDs B and C possess a conserved basic groove, which it is speculated may represent intermediate filament binding sites [125]. Amino acid residues that are proposed to interact with vimentin [125] are indicated in purple. Also depicted are the newly identified and as of yet unpublished mutations of R222L and H618P.