Project 3 > Mutation Database > MYBPC3 mutations > Gly5Arg

The Gly5Arg mutation of human cardiac Myosin-Binding Protein C

(other names:  G5R, G5R)

SEQUENCE
exon 2
nucleotide change g>c
nucleotide pos. in gene 1047
UCSC Golden Path position 47330762
charge change  
codon change ggg>cgg
transcript change Missense mutation
translation change  


mutated amplimer sequence:
gacctcagctctctggaattcatctatatttagcaggtggctggacagga
ggcagataagcagagcctggggaggggggaggtccccatatatagtggga
aggacaggaccccactcagtccctctttgggtgacctgtgcctgcttcgt
gcctggtgtgacgtctctcaggatgcctgagccgCggaagaagccaggta
gctttaggactggggttgggtctaagtgtgggagcaggggggtgtctaca
attggggagcagggctaggagggagttcttgagggggttgacgaggacgt
ggcctctgagc


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