Project 3 > Mutation Database > TNNT2 mutations > Trp287ter

The Trp287ter mutation of human cardiac Troponin T

SEQUENCE
exon 16
nucleotide change  
nucleotide pos. in gene 14852..14853
UCSC Golden Path position 198060002..198060001
charge change  
codon change  
transcript change  
translation change  


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)
 

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Last modified: April 24, 2006