Figure 1From: Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy Significance of novel desmosomal mutations assessed by localization within functionally important domains and their evolutionary conservation. (A) DSG2, p.Ile70Val (c.208A > G); (B) DSC2, p.Thr412Asnfs*2 (c.1234_1235insA); (C) PKP2, p.L847Rfs*83 (c.2540delT). The numbered white box signifies an exon; the arrow signifies the site of mutation; the grey background indicates identity across species; the box surrounding an amino acid indicates the mutated residue. S, signal domain; P, preprotein domain; EC, extracellular domain; EA, extracellular anchor; TM, transmembrane domain; IA, intracellular anchor domain; ICS, intracellular cadherin-typical segment domain; LD, linker domain; RUD, repeat unit domain; TD, terminal domain.Back to article page