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MYLK3 variant and scheme of cardiac myosin light chain kinase structure. (A) Schematic of the genomic structure of human MYLK3 and functional domains of myosin light chain kinase. p.Pro639Valfs*15 mutations locate in the serine/threonine kinase domain. (B) Protein sequence alignment of cardiac myosin light chain kinase in vertebrates. Residue 639 is highly conserved across species. DCM, dilated cardiomyopathy.
