Project 3 > Mutation Database > MYH7 mutations > Met659Ile

The Met659Ile mutation of human beta-cardiac Myosin Heavy Chain

(other names:  M659I)

SEQUENCE
exon 18
nucleotide change G>A
nucleotide pos. in gene 12590
UCSC Golden Path position 22965893
amino acid changeMet>Ile
charge change 0
codon change ATG>ATA
transcript change missense
translation change  


mutated amplimer sequence:
catctctgtgacttctcgaattctctccatctctcttttccttccttctt
ctcctctcttcttcctgcatctctttctggcattttctttacttttctct
attgcatttttggccacaggaaaatctgaacaagctgatAaccaacttgc
gctccacccatccccactttgtacgttgtatcatccctaatgagacaaag
tctccaggtgaggccacaaactagggccaacccactgctgggcatacacc
gccctgggaacaggacctcctaggacatctccctacctaccaccacagtg


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M.
    Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
    Circulation 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. (PubMed:12707239)
 

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Last modified: April 24, 2006