Project 3 > Mutation Database > MYBPC3 mutations > IVS18+2T>C

The IVS18+2T>C mutation of human cardiac Myosin-Binding Protein C

(other names:  IVS17+2:t11073c)

SEQUENCE
intron 18
nucleotide change t>c
nucleotide pos. in gene 11073
UCSC Golden Path position 47320703
charge change  
codon change  
transcript change Splice donor site
translation change  


mutated amplimer sequence:
ggaggagggggcgcaagtcaaatggtgagttccagaagcacggggcatgg
gtgttgggggcatctgcccagaagaggccacagcacttgccacccaccca
cccggctaggctgaaggacggggtggagctgacccgggaggagaccttca
aataccggttcaagaaggacgggcagagacaccacctgatcatcaacgag
gccatgctggaggacgcggggcactatgcactgtgcactagcgggggcca
ggcgctggctgagctcattgtgcagggCgagcctggctgggggggcacat
gaggctttagggcttggacccctcagcccccaccccacctagccctgtag
gggagcaggcaaacctgggctcaaggcctctgtgaccttgggcctttgac


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