Project 3 > Mutation Database > TNNT2 mutations > Arg94Leu

The Arg94Leu mutation of human cardiac Troponin T

(other names:  R94L)

SEQUENCE
exon 9
nucleotide change G>T
nucleotide pos. in gene 8778
UCSC Golden Path position 198066076
amino acid changeArgİLeu
charge change  
codon change CGC>CTC
transcript change missense
translation change substitution


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


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Varnava A, Baboonian C, Davison F, de Cruz L, Elliott PM, Davies MJ, McKenna WJ.
    A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
    Heart 1999 Nov;82(5):621-4. (PubMed:10525521)
  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)
 

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Last modified: April 24, 2006