Project 3 > Mutation Database > MYBPC3 mutations > Glu567fs

The Glu567fs mutation of human cardiac Myosin-Binding Protein C

(other names:  E567fs, C566 fs/3)

SEQUENCE
exon 19
nucleotide change del ga
nucleotide pos. in gene 11567..11568
UCSC Golden Path position 47320209..47320208
charge change  
codon change  
transcript change Frameshift mutation
translation change  


mutated amplimer sequence:
acaggcacacgtgttttcacatgcccacatgcacccagacacgtgcgcac
cagcgcccatgggcccacacgccctccacagggattcacgccacacccac
acaccctcccgagctcaatggctctgccctgccctgcagaaaagaagctg
gaggtgtaccagagcatcgcagacctgatggtgggcgcaaaggaccaggc
ggtgttcaaatgTGgtctcagatgagaatgttcggggtgtgtggctgaag
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