Project 3 > Mutation Database > MYBPC3 mutations > IVS16-1g>a

The IVS16-1g>a mutation of human cardiac Myosin-Binding Protein C

SEQUENCE
intron 16
nucleotide change G>A
nucleotide pos. in gene 10713
UCSC Golden Path position 47321063
charge change  
codon change  
transcript change  
translation change  


mutated amplimer sequence:
aacacttcaacggccccttctgttctacagcaagtaagttcccctctgga
tggcttggggtggggggcacagggattatcacggggcgcactgggcccgg
aggggtgtccgcagctttcctgccacttccctgcggcccccacccaggta
catctttgagtccatcggtgccaagcgtaccctgaccatcagccagtgct
cattggcggacgacgcagcctaccagtgcgtggtgggtggcgagaagtgt
agcacggagctctttgtgaaaggtgggcctgggacctgaggatgtgggaa
cctggggaggagatggcctcaggggagccaaccctcatgctcaccctgcc
tggacaAagccccctgtgctcatcacgcgccccttggaggaccagctggt
gatggtggggcagcgggtggagtttgagtgtgaagtatcggaggaggggg
c


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Song L, Zou Y, Wang J, Wang Z, Zhen Y, Lou K, Zhang Q, Wang X, Wang H, Li J, Hui R.
    Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
    Clin Chim Acta 2005 Jan;351(1-2):209-16. (PubMed:15563892)
 

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Last modified: April 24, 2006