Project 3 > Mutation Database > MYBPC3 mutations > Glu60fs

The Glu60fs mutation of human cardiac Myosin-Binding Protein C

(other names:  E60fs, T59 fs/49)

SEQUENCE
exon 3
nucleotide change del gggcacacggc
nucleotide pos. in gene 2331..2341
UCSC Golden Path position 47329478..47329468
charge change  
codon change  
transcript change Frameshift mutation
translation change  


mutated amplimer sequence:
gtgcacgctccaaccaggggccgctgtagcctccacctggcccttcagtc
tcagcttttagcaagaagccacggtcagtggaagtggccgcaggcagccc
tgccgtgttcgaggccgagacagagcgggcaggagtgaaggtgcgctggc
agcgcggaggcagtgacatcagcgccagcaacaagtacggcctggccaca
gAAtacgctgacagtgcgggaagtgggccctgccgaccagggatcttacg
cagtcattgctggctcctccaaggtcaagttcgacctcaaggtcatagag
gcaggtaagatcctgatcagccttccctgaggtttgggctgctgggggag
gggcagcccagcgactctccatccatccagggaacaggaggtgctttcac
actttcttgcctttgctg


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