Project 3 > Mutation Database > MYBPC3 mutations > Val547fs

The Val547fs mutation of human cardiac Myosin-Binding Protein C

(other names:  V547fs, E546 fs/19)

SEQUENCE
exon 19
nucleotide change del gt
nucleotide pos. in gene 11507..11508
UCSC Golden Path position 47320269..47320268
charge change  
codon change  
transcript change Frameshift mutation
translation change  


mutated amplimer sequence:
acaggcacacgtgttttcacatgcccacatgcacccagacacgtgcgcac
cagcgcccatgggcccacacgccctccacagggattcacgccacacccac
acaccctcccgagctcaatggctctgccctgccctgcagaaaagaagctg
gaGGtaccagagcatcgcagacctgatggtgggcgcaaaggaccaggcgg
tgttcaaatgtgaggtctcagatgagaatgttcggggtgtgtggctgaag
aatgggaaggagctggtgcccgacagccgcataaaggtgtcccacatcgg
gcggtgagtgtgcagggcaggtggatgggacaggtggagactg


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ.
    Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
    J Am Coll Cardiol 2004 Nov 2;44(9):1903-10. (PubMed:15519027)
 

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Last modified: April 24, 2006