Project 3 > Mutation Database > MYBPC3 mutations > Pro699fs

The Pro699fs mutation of human cardiac Myosin-Binding Protein C

(other names:  P699fs, A698 fs/54, Del C698)

SEQUENCE
exon 23
nucleotide change del C
nucleotide pos. in gene 14274
UCSC Golden Path position 47317503
charge change  
codon change  
transcript change frameshift
translation change truncation


mutated amplimer sequence:
gctcctctgctccctacttccctcctgccctgttcccaggggaataaggc
cccagccaggccagccCAgatgccccagaggacacaggtgacagcgatga
gtgggtgtttgacaagaaggtgagtgagactgaggtcaggaggaggctcg
tttgtctttcatcactttctacctacgtggtgccgagcccttggcgaggt
ctccatggaggtgccacacttggccgggtgtgttgctgcccccagcaggg
tccctgtggggccctcacacctcaggcagagggtctctgtgaagtgtgct
gatggccat


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE.
    Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
    N Engl J Med 1998 Apr 30;338(18):1248-57. (PubMed:9562578)
  2. 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)
  3. Carballo S, Blair E, Watkins H.
    Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
    Circulation 2005, 112(17):II-411, abstract #2003 (abstract)
 

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Last modified: April 24, 2006