Project 3 > Mutation Database > MYBPC3 mutations > Gln76ter

The Gln76ter mutation of human cardiac Myosin-Binding Protein C

(other names:  Q76X)

SEQUENCE
exon 3
nucleotide change c>t
nucleotide pos. in gene 2377
UCSC Golden Path position 47329432
charge change  
codon change cag>tag
transcript change Termination codon
translation change  


mutated amplimer sequence:
gtgcacgctccaaccaggggccgctgtagcctccacctggcccttcagtc
tcagcttttagcaagaagccacggtcagtggaagtggccgcaggcagccc
tgccgtgttcgaggccgagacagagcgggcaggagtgaaggtgcgctggc
agcgcggaggcagtgacatcagcgccagcaacaagtacggcctggccaca
gagggcacacggcatacgctgacagtgcgggaagtgggccctgccgacTa
gggatcttacgcagtcattgctggctcctccaaggtcaagttcgacctca
aggtcatagaggcaggtaagatcctgatcagccttccctgaggtttgggc
tgctgggggaggggcagcccagcgactctccatccatccagggaacagga
ggtgctttcacactttcttgcctttgctg


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