Project 3 > Mutation Database > TNNT2 mutations > Ile79Asn

The Ile79Asn mutation of human cardiac Troponin T

(other names:  I79N)

mutated amplimer sequence:
ggatcagggccctgcctgtcctggacaccctcagtccctgggtccagaat
ggggctgatgctgactattcctctctccaacaggtcgttcatgcccaact
tggtgcctcccaagaAccccgatggagagagagtggactttgatgtaagc
ggtggctgtgggttgagtaggcctgggctggggatagtcccaagggccct
cagtgacagagattttgtgaccttgggctggggtagagcataggtgggat
ggggtgcagcaccagccaggctgggtgcccatccatgagcgtggtcctgg
gttcaggccacagttaccccttccctggccaggcgccaggccctgccaga
ggtcttttgcactgcgttggggggtgtctagcccacccatctctcctctg
gactctttggagtggcagcctctgagccgcagcggtccacccacaggaca
tccaccggaagcgcatggagaaggacctgaatgagttgcaggcgctgatc
gaggctcactttgagaacaggaagaaagaggaggagga

References and comments
1. Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE.
   Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
   Cell 1994 Jun 3;77(5):701-12. (PubMed:8205619)
   • I79N not present in 200 normal chromosomes.
2. Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'Donoghue A, Spirito P, Matsumori A, Moravec CS, Seidman JG, et al..
   Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
   N Engl J Med 1995 Apr 20;332(16):1058-64. (PubMed:7898523)
   • Family was linked to TNNT2 locus.
3. Yanaga F, Morimoto S, Ohtsuki I.
   Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.
   J Biol Chem 1999 Mar 26;274(13):8806-12. (PubMed:10085122)
4. Varnava AM, Elliott PM, Baboonian C, Davison F, Davies MJ, McKenna WJ.
   Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease.
   Circulation. 2001 Sep 18;104(12):1380-4. (PubMed:11560853)
5. Palm T, Graboski S, Hitchcock-DeGregori SE, Greenfield NJ.
   Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
   Biophys J 2001 Nov;81(5):2827-37. (PubMed:11606294)

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Last modified: April 24, 2006