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Fig. 3 | Journal of Translational Medicine

Fig. 3

From: Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome

Fig. 3

Structure modeling of the mutated domains of Desmin and Myopalladin. a The model of DES built from the segment of 149th–253th amino-acids sequence. The mutation caused the 234th acidic residue glutamic acid to be replaced by an alkaline residue lysine, which influence the dimerization of protein. b The model of MYPN built from the segment of 944th–1044th amino-acids sequence. The mutation caused the 989th liphatic amino-acid arginine to be replaced by a heterocyclic residue histidine in mutated myopallin, which changed the protein conformation and was predicted to influence the myopalladin interaction with ACTN

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