Variant: rs121964855 

    present in Gene: TNNT2
    present in Chromosome: 1
    Position on Chromosome: 201365638
    Alleles of this Variant: A/T

rs121964855 in TNNT2 gene and CARDIOMYOPATHY, DILATED, 1D (disorder) PMID 23663841 2013 Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.

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

PMID 10617660 2000 Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

PMID 10085122 1999 Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.

PMID 21683708 2011 Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations.

PMID 11113119 2001 Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy.

PMID 11060291 2001 Characterization of the two eIF4A-binding sites on human eIF4G-1.

PMID 18651846 2008 Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.

rs121964855 in TNNT2 gene and CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) PMID 11113119 2001 Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy.

PMID 18651846 2008 Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.

PMID 21683708 2011 Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations.

PMID 23663841 2013 Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.

PMID 11060291 2001 Characterization of the two eIF4A-binding sites on human eIF4G-1.

PMID 10617660 2000 Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

PMID 10085122 1999 Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.

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

rs121964855 in TNNT2 gene and Cardiomyopathy, Familial Hypertrophic, 2 PMID 8205619 1994 Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

PMID 9060892 1997 Sudden death due to troponin T mutations.

PMID 15563892 2005 Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

PMID 18651846 2008 Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.

PMID 9482583 1998 A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 11034944 2000 Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 11060291 2001 Characterization of the two eIF4A-binding sites on human eIF4G-1.

PMID 11113119 2001 Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy.

PMID 9140840 1997 Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.

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

PMID 10617660 2000 Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

PMID 16199542 2005 Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PMID 23663841 2013 Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.

PMID 10525521 1999 A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 21683708 2011 Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations.

PMID 10085122 1999 Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.

PMID 8989109 1996 Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

rs121964855 in TNNT2 gene and Hypertrophic Cardiomyopathy PMID 7898523 1995 Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

PMID 10085122 1999 Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.

PMID 11606294 2001 Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.

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

PMID 11060294 2001 Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation.

PMID 18651846 2008 Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.

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

PMID 11113119 2001 Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy.