Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations.
More than 200 mutations in the beta-myosin gene (MYH7) that cause clinically distinct cardiac and/or skeletal myopathies have been reported, but to date, no comprehensive statistical analysis of these mutations has been performed. As a part of this review, we developed a new interactive database and research tool called MyoMAPR (Myopathic Mutation Analysis Profiler and Repository). We report that the distribution of mutations along the beta-myosin gene is not homogeneous, and that myosin is a highly constrained molecule with an uncommon sensitivity to amino acid substitutions. Increasing knowledge of the characteristics of MH7 mutations may provide a valuable resource for scientists and clinicians studying diagnosis, risk stratification, and treatment of disease associated with these mutations.
Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO 80309, USA.
Massimo
M
Buvoli
Micah
M
Hamady
Leslie A
LA
Leinwand
Rob
R
Knight
D024722:Cardiac Myosins / Q000737:chemistry / Q000235:genetics*; D009202:Cardiomyopathies / Q000235:genetics; D019295:Computational Biology; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D020022:Genetic Predisposition to Disease; D023281:Genomics; D006801:Humans; D009135:Muscular Diseases / Q000235:genetics; D009154:Mutation; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics*; D011487:Protein Conformation; D017434:Protein Structure, Tertiary
C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains