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 |
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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. |
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ISSN: | 1050-1738 1873-2615 |
DOI: | 10.1016/j.tcm.2008.04.001 |