Project 3 > Mutation Database > TNNT2 mutations > Arg286Cys

The Arg286Cys mutation of human cardiac Troponin T

SEQUENCE
exon 16
nucleotide change C>T
nucleotide pos. in gene 14848
UCSC Golden Path position 198060006
charge change  
codon change  
transcript change  
translation change  


mutated amplimer sequence:
gggggtgaaatgtggggcggagaagcttccctccagcctcaggctgctgt
cctattctgcccctggaggcagctccagcctgctcctctcccctttggca
ccccagtcctaccccagccgcatggtgacctactaccctgcctgtgtctc
catgtcactgcgtcctgcttcccctgcagctccaagacccgcgggaaggc
taaagtcaccgggTgctggaaatagagcctggcctccttcaccaaagatc
tgctcctcgctcgcacctgcctccggcctgcactcccccagttcccgggc
cctcctgggcaccccaggcagctcctgtttggaaatggggagctggccta
ggtgggagccaccactcctgcctgcccccacac


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. 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)
  2. Miliou A, Anastasakis A, D'Cruz LG, Theopistou A, Rigopoulos A, Rizos I, Stamatelopoulos S, Toutouzas P, Stefanadis C.
    Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort.
    Heart 2005 Jul;91(7):966-7. (PubMed:15958377)
 

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Last modified: April 24, 2006