FIGURE 2  Schematic of the five desmosomal proteins in which ARVD/C mutations have been identified and published.

From the following article:

Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

Mark M Awad, Hugh Calkins and Daniel P Judge

Nature Clinical Practice Cardiovascular Medicine (2008) 5, 258-267
doi:10.1038/ncpcardio1182

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Figure 2.  Schematic of the five desmosomal proteins in which ARVD/C mutations have been identified and published.

Heterozygous mutations are indicated above each diagram and homozygous mutations are indicated below each diagram. (A) Plakoglobin; the 13 armadillo domains are numbered. (B) Desmoplakin; the five N-terminal alpha-helical bundles (Z, Y, X, W, V) are shown, followed by the rod domain required for dimerization and the A, B, and C subdomains of the plakin-repeat domain. (C) Plakophilin-2; the 10 armadillo domains are numbered. (D) Desmoglein-2 and (E) Desmocollin-2. Abbreviations: DTD, desmoglein-specific terminal domain; EA, extracellular anchor; EC1-4, extracellular domains 1-4; IA, intracellular anchor; ICS, intracellular cadherin segment; IPL, intracellular proline-rich linker; Pro, propeptide; RUD, 6 repeated-unit domains; SS, signal peptide sequence; TM, transmembrane domain.

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