Project 3 > Mutation Database > MYBPC3 mutations > Asp389fs

The Asp389fs mutation of human cardiac Myosin-Binding Protein C

(other names:  D389fs, D389 fs/15)

SEQUENCE
exon 14
nucleotide change del c
nucleotide pos. in gene 10101
UCSC Golden Path position 47321675
charge change  
codon change  
transcript change Frameshift mutation
translation change  


mutated amplimer sequence:
ggcggcacagaggggattggagggggggacctgggccccagccacagcca
cagtagcttggcctgggggagcagggtgcgggcggtggggtggtcggggc
tgaggggtggtgctcagcctttcagaagaagctggagccggcctaccagg
tgagcaaaggccacaagatccggctgaccgtggaactggctgACatgacg
ctgaggtcaaatggctcaagaatggccaggagatccagatgagcggcagg
tgcagcctggggtggggaggggggctcgggtggaggtggggacccccata
gccttgcctcctgcccctctccacatgcgtatctctgactcggtgtggct
ctcagccccatctctctgggcctaatttcccatccttttgctcctgccgg
t


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