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A8V

A8V is point mutation on Troponin C (cTNC) that leads to a hypertrophic cardiomyopathy. The coordinated cardiac muscle contraction is regulated by the troponin complex on thin filament (troponin C which is calcium binding, troponin T that plays the role with tropomyosin, and troponin I which has an inhibitory action annulating the S1 ATPase activity in the presence of tropomyosin and troponin and absence of Ca<sup>2+</sup>). This mutation is determined by the change of Alanine to Valine at nucleotide 23 from C to T. Patients with this type of mutation shows thickness on the left ventricle wall of around 18&nbsp;mm, compared to the normal this thickness would be 12&nbsp;mm. Also, A8V affects the Ca<sup>2+</sup> binding affinity compared to normal genotype and increased sensitivity on force development.

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