Project 3 > Mutation Database > MYH7 mutations > Arg663Cys

The Arg663Cys mutation of human beta-cardiac Myosin Heavy Chain

(other names:  R663C)

SEQUENCE
exon 18
nucleotide change C>T
nucleotide pos. in exon 31
nucleotide pos. in gene 12600
UCSC Golden Path position 22965883
amino acid changeArgÝCys
charge change  
codon change CGC>TGC
transcript change missense
translation change substitution


mutated amplimer sequence:
catctctgtgacttctcgaattctctccatctctcttttccttccttctt
ctcctctcttcttcctgcatctctttctggcattttctttacttttctct
attgcatttttggccacaggaaaatctgaacaagctgatgaccaacttgT
gctccacccatccccactttgtacgttgtatcatccctaatgagacaaag
tctccaggtgaggccacaaactagggccaacccactgctgggcatacacc
gccctgggaacaggacctcctaggacatctccctacctaccaccacagtg


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Coviello et al., 1997. (abstract)
  2. Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ.
    Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
    J Am Coll Cardiol 2004 Aug 4;44(3):602-10. (PubMed:15358028)
  3. Song L, Zou Y, Wang J, Wang Z, Zhen Y, Lou K, Zhang Q, Wang X, Wang H, Li J, Hui R.
    Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
    Clin Chim Acta 2005 Jan;351(1-2):209-16. (PubMed:15563892)
 

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Last modified: April 24, 2006