Article
Familial hypertrophic cardiomyopathy-related cardiac troponin C mutation L29Q affects Ca2+ binding and myofilament contractility.
Physiological genomics - 22 Apr 2008
Liang Bo, Chung Franca, Qu Yang, Pavlov Dmitri, Gillis Todd E, Tikunova Svetlana B, Davis Jonathan P, Tibbits Glen F
Abstract excerpt
The cardiac troponin C (cTnC) mutation, L29Q, has been found in a patient with familial hypertrophic cardiomyopathy. We previously showed that L29, together with neighboring residues, Asp2, Val28, and Gly30, plays an important role in determining the Ca(2+) affinity of site II, the regulatory site of mammalian cardiac troponin C (McTnC). Here we report on the Ca(2+) binding characteristics of L29Q McTnC and...
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