Project 3 > Mutation Database > MYBPC3 mutations > IVS15-13G>A

The IVS15-13G>A mutation of human cardiac Myosin-Binding Protein C

(other names:  IVS14-13G>A, IVS15-10G>A)

SEQUENCE
intron 15
nucleotide change G>A
nucleotide pos. in gene 10491
UCSC Golden Path position 47321285
charge change  
codon change  
transcript change splicing, truncation
translation change truncation


mutated amplimer sequence:
aacacttcaacggccccttctgttctacagcaagtaagttcccctctgga
tggcttggggtggggggcacagggattatcacggggcgcactgggcccgg
aggggtgtccgcagctttcctgccacttccctgcAgcccccacccaggta
catctttgagtccatcggtgccaagcgtaccctgaccatcagccagtgct
cattggcggacgacgcagcctaccagtgcgtggtgggtggcgagaagtgt
agcacggagctctttgtgaaaggtgggcctgggacctgaggatgtgggaa
cctggggaggagatggcctcaggggagccaaccctcatgctcaccctgcc
tggacagagccccctgtgctcatcacgcgccccttggaggaccagctggt
gatggtggggcagcgggtggagtttgagtgtgaagtatcggaggaggggg
c


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Jaaskelainen P, Kuusisto J, Miettinen R, Karkkainen P, Karkkainen S, Heikkinen S, Peltola P, Pihlajamaki J, Vauhkonen I, Laakso M.
    Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.
    J Mol Med 2002 Jul;80(7):412-22. Epub 2002 Apr 11. (PubMed:12110947)
 

citations & disclaimer | contact us

Last modified: April 24, 2006