Project 3 > Mutation Database > MYBPC3 mutations > IVS14-2a>g

The IVS14-2a>g mutation of human cardiac Myosin-Binding Protein C

(other names:  IVS14-2:a10385g)

SEQUENCE
intron 14
nucleotide change a>g
nucleotide pos. in gene 10385
UCSC Golden Path position 47321391
charge change  
codon change  
transcript change Splice acceptor site
translation change  


mutated amplimer sequence:
atccggctgaccgtggaactggctgaccatgacgctgaggtcaaatggct
caagaatggccaggagatccagatgagcggcaggtgcagcctggggtggg
gaggggggctcgggtggaggtggggacccccatagccttgcctcctgccc
ctctccacatgcgtatctctgactcggtgtggctctcagccccatctctc
tgggcctaatttcccatccttttgctcctgccggtccctctctctctctc
cttttgtctcgggctcacttcctcccgtcgggaacacttcaacggcccct
tctgttctacGgcaagtaagttcccctctggatggcttggggtggggggc
acagggattatcacggggcgcactg


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