D145E
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D145E is a point mutation on troponin C that leads to hypertrophic cardiomyopathy disease. This mutation is caused by the change of nucleotide C to A at nucleotide 435,[1] switching the amino acid aspartic acid to glutamic acid, which is located at the C-terminal tail.[2] Patients with this mutation have different structure on the thin filament and alter the binding of Ca2+ at the troponin C site IV.[1][3] Further, D145E causes increase in development of force and activation of ATPase in the presence of Ca2+.[4]
References
- ^ a b Landstrom, Andrew P.; Parvatiyar, Michelle S.; Pinto, Jose R.; Marquardt, Michelle L.; Bos, J. Martijn; Tester, David J.; Ommen, Steve R.; Potter, James D.; Ackerman, Michael J. (August 2008). "Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C". Journal of Molecular and Cellular Cardiology. 45 (2): 281–288. doi:10.1016/j.yjmcc.2008.05.003. PMC 2627482. PMID 18572189.
- ^ Kalyva, Athanasia; Parthenakis, Fragiskos I.; Marketou, Maria E.; Kontaraki, Joanna E.; Vardas, Panos E. (2014-04-01). "Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies". Journal of Muscle Research and Cell Motility. 35 (2): 161–178. doi:10.1007/s10974-014-9382-0. ISSN 1573-2657. PMID 24744096. S2CID 1726747.
- ^ Solaro, R. John; Rosevear, Paul; Kobayashi, Tomoyoshi (2008-04-25). "The unique functions of cardiac troponin I in the control of cardiac muscle contraction and relaxation". Biochemical and Biophysical Research Communications. Ebashi Memorial Issue. 369 (1): 82–87. doi:10.1016/j.bbrc.2007.12.114. ISSN 0006-291X. PMC 2365727. PMID 18162178.
- ^ Pinto, Jose Renato; Parvatiyar, Michelle S.; Jones, Michelle A.; Liang, Jingsheng; Ackerman, Michael J.; Potter, James D. (2009-07-10). "A Functional and Structural Study of Troponin C Mutations Related to Hypertrophic Cardiomyopathy". Journal of Biological Chemistry. 284 (28): 19090–19100. doi:10.1074/jbc.M109.007021. ISSN 0021-9258. PMC 2707221. PMID 19439414.
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