Project 3 > Mutation Database > MYBPC3 mutations > Arg502Gln

The Arg502Gln mutation of human cardiac Myosin-Binding Protein C

(other names:  R502Q)

SEQUENCE
exon 18
nucleotide change G>A
nucleotide pos. in gene 10952
UCSC Golden Path position 47320824
amino acid changeArgÝGln
charge change  
codon change CGG>CAG
transcript change missense
translation change substitution


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


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. Cardim N, Perrot A, Santos S, Morgado P, Padua M, Ferreira S, Reis RP, Monteiro C, Ferreira T, Correia JM, Osterziel KJ.
    Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.
    Rev Port Cardiol. 2005 Dec;24(12):1463-76. (PubMed:16566405)
 

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Last modified: April 24, 2006