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Figure 1 | BMC Medical Genetics

Figure 1

From: Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

Figure 1

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.

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BMC Medical Genetics

ISSN: 1471-2350

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