Project 3 > Mutation Database > MYBPC3 mutations > Gly507Arg

The Gly507Arg mutation of human cardiac Myosin-Binding Protein C

(other names:  G507R)

SEQUENCE
exon 18
nucleotide change G>A
nucleotide pos. in gene 10966
UCSC Golden Path position 47320810
amino acid changeGly>Arg
charge change +1
codon change GGG>AGG
transcript change missense
translation change substitution


mutated amplimer sequence:
ggaggagggggcgcaagtcaaatggtgagttccagaagcacggggcatgg
gtgttgggggcatctgcccagaagaggccacagcacttgccacccaccca
cccggctaggctgaaggacggggtggagctgacccgggaggagaccttca
aataccggttcaagaaggacAggcagagacaccacctgatcatcaacgag
gccatgctggaggacgcggggcactatgcactgtgcactagcgggggcca
ggcgctggctgagctcattgtgcagggtgagcctggctgggggggcacat
gaggctttagggcttggacccctcagcccccaccccacctagccctgtag
gggagcaggcaaacctgggctcaaggcctctgtgaccttgggcctttgac


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Erdmann J, Raible J, Maki-Abadi J, Hummel M, Hammann J, Wollnik B, Frantz E, Fleck E, Hetzer R, Regitz-Zagrosek V.
    Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
    J Am Coll Cardiol 2001 Aug;38(2):322-30. (PubMed:11499719)
  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)
 

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Last modified: April 24, 2006