title: Structural implications of β-cardiac myosin heavy chain mutations in human disease.
abstract: Over 500 disease-causing point mutations have been found in the human β-cardiac myosin heavy chain, many quite recently with modern sequencing techniques. This review shows that clusters of these mutations occur at critical points in the sequence and investigates whether the many studies on these mutants reveal information about the function of this protein.
authors.affiliation: Faculty of Biological Sciences, School of Molecular and Cellular Biology, University of Leeds, Leeds LS2 9JT, United Kingdom.
authors.forename: Melanie
authors.initials: M
authors.lastname: Colegrave
authors.forename: Michelle
authors.initials: M
authors.lastname: Peckham
mesh_terms: D000595:Amino Acid Sequence; D024722:Cardiac Myosins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006331:Heart Diseases / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D011487:Protein Conformation; D012307:Risk Factors; D013329:Structure-Activity Relationship
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains
keywords: cardiac disease; point mutation; skeletal muscle disease; β-cardiac myosin