Variant: rs111377893 

    present in Gene: TNNT2
    present in Chromosome: 1
    Position on Chromosome: 201359622
    Alleles of this Variant: C/A;G;T

rs111377893 in TNNT2 gene and Hypertrophic Cardiomyopathy PMID 10617660 2000 Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

PMID 7898523 1995 Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

PMID 21245263 2011 Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish.

PMID 10529204 1999 Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants.

PMID 15568820 2004 The Delta 14 mutation of human cardiac troponin T enhances ATPase activity and alters the cooperative binding of S1-ADP to regulated actin.

PMID 9637714 1998 A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy.

PMID 8205619 1994 Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

PMID 8958207 1996 Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action.

PMID 11560853 2001 Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease.