D145E explained

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.^[3] Further, D145E causes increase in development of force and activation of ATPase in the presence of Ca²⁺.^[4]

References

1. 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. 10.1016/j.yjmcc.2008.05.003. 2627482. 18572189.
2. 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. 10.1007/s10974-014-9382-0. 24744096. 1726747. 1573-2657.
3. 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. 10.1016/j.bbrc.2007.12.114. 0006-291X. 2365727. 18162178.
4. 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. 10.1074/jbc.M109.007021. 0021-9258. 2707221. 19439414. free.