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.
Buvoli
Massimo
M
Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO 80309, USA.
Hamady
Micah
M
Leinwand
Leslie A
LA
Knight
Rob
R
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