Project 3 > Mutation Database > TNNT2 mutations > Ala104Val

The Ala104Val mutation of human cardiac Troponin T

(other names:  A104V)

SEQUENCE
exon 9
nucleotide change C>T
nucleotide pos. in gene 8808
UCSC Golden Path position 198066046
amino acid changeAlaİVal
charge change  
codon change GCG>GTG
transcript change missense
translation change substitution


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


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Yamauchi-Takihara et al., 1996. (abstract)
  2. Nakajima-Taniguchi C, Matsui H, Fujio Y, Nagata S, Kishimoto T, Yamauchi-Takihara K.
    Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.
    J Mol Cell Cardiol 1997 Feb;29(2):839-43. (PubMed:9140840)
  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. Hinkle A, Tobacman LS.
    Folding and function of the troponin tail domain. Effects of cardiomyopathic troponin T mutations.
    J Biol Chem 2003 Jan 3;278(1):506-13. Epub 2002 Oct 29. (PubMed:12409295)
 

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Last modified: April 24, 2006