Project 3 > Mutation Database > MYBPC3 mutations > IVS12-2A>G

The IVS12-2A>G mutation of human cardiac Myosin-Binding Protein C

(other names:  Int12ASA-2G)

SEQUENCE
intron 12
nucleotide change A>G
nucleotide pos. in gene 7308
UCSC Golden Path position 47324499
charge change  
codon change  
transcript change splice acceptor site
translation change  


mutated amplimer sequence:
tccccagcccctcttcagctcccttggcccccagtcctgcctggcctggg
acccagagcagctccagctgccccaccagaagggaaggggcagagggaca
ggggtggctacagctccttggtcctgggcccaggaagccccgcccagggg
gctgcagtcttgcccccggccacagcctagactgcgggacacGgggactc
gaagctggaggcaccagcagaggaggacgtgtgggagatcctacggcagg
cacccccatctgagtacgagcgcatcgccttccagtacggcgtcactgac
ctgcgcggcatgctaaagaggctcaagggcatgaggcgcgatgagaagaa
gagcacaggttagcccttcctcagaggggagaggagagggcacaggctag
cccttccctacacaggagaggagagggcataggttagcccttccccacag
ggagaggagagggcacaggttagccccccacctcgtccacatacatggaa
agagcggagtccggc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE.
    Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
    N Engl J Med 1998 Apr 30;338(18):1248-57. (PubMed:9562578)
  2. 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