How ARVC-related mutations destabilize desmoplakin: an MD study

Arrythmogenic right ventricular cardiomiopathy (ARVC) is a familial heart disease linked to mutations in several desmosomal proteins, but the specific effects of these mutations on the molecular level are poorly understood. Among the many documented ARVC-related genetic variants, a striking hotspot of 9 mutations has been identified in the plakin domain of desmoplakin. This hotspot can be found at the meeting point of three different subdomains of desmoplakin: two spectrin repeats (SRs) and a Src homology 3 domain (SH3).

http://bit.ly/2B9HoHm