Project 3 > Mutation Database > MYBPC3 mutations > Gly490Arg

The Gly490Arg mutation of human cardiac Myosin-Binding Protein C

(other names:  G490R, G490R)

SEQUENCE
exon 18
nucleotide change g>a
nucleotide pos. in gene 10915
UCSC Golden Path position 47320861
charge change  
codon change ggg>agg
transcript change Missense mutation
translation change  


mutated amplimer sequence:
cggacgacgcagcctaccagtgcgtggtgggtggcgagaagtgtagcacg
gagctctttgtgaaaggtgggcctgggacctgaggatgtgggaacctggg
gaggagatggcctcaggggagccaaccctcatgctcaccctgcctggaca
gagccccctgtgctcatcacgcgccccttggaggaccagctggtgatggt
ggggcagcgggtggagtttgagtgtgaagtatcggaggagggggcgcaag
tcaaatggtgagttccagaagcacggggcatgggtgttgggggcatctgc
ccagaagaggccacagcacttgccacccacccacccggctaggctgaagg
acAgggtggagctgac


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