Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy.

@article{Lang2002FunctionalAO,
  title={Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy.},
  author={Rosalyn Lang and Aldrin V Gomes and Jiaju Zhao and Philippe R. Housmans and Todd F. Miller and James D. Potter},
  journal={The Journal of biological chemistry},
  year={2002},
  volume={277 14},
  pages={
          11670-8
        }
}
Familial hypertrophic cardiomyopathy has been associated with several mutations in the gene encoding human cardiac troponin I (HCTnI). A missense mutation in the inhibitory region of TnI replaces an arginine residue at position 145 with a glycine and cosegregates with the disease. Results from several assays indicate that the inhibitory function of HCTnI(R145G) is significantly reduced. When HCTnI(R145G) was incorporated into whole troponin, Tn(R145G) (HCTnT small middle dotHCTnI(R145G) small… CONTINUE READING
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