Bioinformatics Assessment of β -Myosin Mutations Reveals Myosin's High Sensitivity to Mutations

More than 200 mutations in the β -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...

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Veröffentlicht in:Trends in cardiovascular medicine 2008-05, Vol.18 (4), p.141-149
Hauptverfasser: Buvoli, Massimo, Hamady, Micah, Leinwand, Leslie A, Knight, Rob
Format: Artikel
Sprache:eng
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Zusammenfassung:More than 200 mutations in the β -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 β -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.
ISSN:1050-1738
1873-2615
DOI:10.1016/j.tcm.2008.04.001