Project 3 > Mutation Database > TNNT2 mutations > Arg92Leu

The Arg92Leu mutation of human cardiac Troponin T

(other names:  R92L, R102L)

mutated amplimer sequence:
ggatcagggccctgcctgtcctggacaccctcagtccctgggtccagaat
ggggctgatgctgactattcctctctccaacaggtcgttcatgcccaact
tggtgcctcccaagatccccgatggagagagagtggactttgatgtaagc
ggtggctgtgggttgagtaggcctgggctggggatagtcccaagggccct
cagtgacagagattttgtgaccttgggctggggtagagcataggtgggat
ggggtgcagcaccagccaggctgggtgcccatccatgagcgtggtcctgg
gttcaggccacagttaccccttccctggccaggcgccaggccctgccaga
ggtcttttgcactgcgttggggggtgtctagcccacccatctctcctctg
gactctttggagtggcagcctctgagccgcagcggtccacccacaggaca
tccaccTgaagcgcatggagaaggacctgaatgagttgcaggcgctgatc
gaggctcactttgagaacaggaagaaagaggaggagga

References and comments
1. Forissier JF, Carrier L, Farza H, Bonne G, Bercovici J, Richard P, Hainque B, Townsend PJ, Yacoub MH, Faure S, Dubourg O, Millaire A, Hagege AA, Desnos M, Komajda M, Schwartz K.
   Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.
   Circulation 1996 Dec 15;94(12):3069-73. (PubMed:8989109)
2. 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)
3. 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)
4. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M.
   Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
   Circulation 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. (PubMed:12707239)

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Last modified: April 24, 2006