Project 3 > Mutation Database > MYH7 mutations > Arg143Gln

The Arg143Gln mutation of human beta-cardiac Myosin Heavy Chain

(other names:  R143Q)

SEQUENCE
exon 5
nucleotide change G>A
nucleotide pos. in exon 83
nucleotide pos. in gene 6739
UCSC Golden Path position 22971762
amino acid changeArgÝGln
charge change  
codon change CGG>CAG
transcript change missense
translation change substitution


mutated amplimer sequence:
atctttctctaactcccaaaatcaccagccctcccccttcgcaactggca
agtcactgctccttttctatccccagacctactcgggcctcttctgtgtc
accgtcaacccttacaagtggctgccggtgtacactcctgaggtggtggc
tgcctaccAgggcaagaagaggagcgaggccccgccccacatcttctcca
tctccgacaacgcctatcagtacatgctgacaggtgagaggccctggaag
gtcttcctgaagggaactgggataggccgggagggagagggagaaggaag
ggagaagccccacgagagcatcctgtgcagctcctgacctttcctcccca
ccctctccccacagacagagaaaaccagtccatcctgatcacgtgagt


RESTRICTION ENZYME
restriction enzyme Hpa II site lost
fragment sizes, wild-type strand (bp) 125, 32, 120
fragment sizes, mutant strand (bp) 157, 120

 
disease HCM

 
    References and comments
  1. Koyanagi T, et al..

    Circulation 1996, 94(8):I-84 (abstract)
  2. Koyanagi T, Harada H, Nishi H, Kawai H, Yokota Y, Koga Y, Toshima H, Kimura A.
    Structural and functional aspects of cardiac beta-myosin heavy chain gene mutations in hypertrophic cardiomyopathy.
    Circulation, 1996, 94(8):I-110 (abstract)
  3. Weist B, McKeown P, Uhl K, Vosberg HP.
    Candidate gene analysis of hypertrophic cardiomyopathy
    J Mol Cell Cardiol 1996, 28(5):A44, abstract #169. (abstract)
  4. 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)
  5. 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