Project 3 > Mutation Database > MYH7 mutations > Val59Ile

The Val59Ile mutation of human beta-cardiac Myosin Heavy Chain

(other names:  V59I, Val56Ile)

SEQUENCE
exon 3
nucleotide change G>A
nucleotide pos. in exon 183
nucleotide pos. in gene 5895
UCSC Golden Path position 22972607
amino acid changeVal>Ile
charge change 0
codon change GTC>ATC
transcript change missense
translation change substitution


mutated amplimer sequence:
tcttgactcttgagcatggtgctaggttttggggctcccactgaagggga
gagcccagggagggaagggaagaatgggcagatgggagggcagccagctt
ctgctcactccaggcacagccatgggagattcggagatggcagtctttgg
ggctgccgccccctacctgcgcaagtcagagaaggagcggctagaagcgc
agaccaggccttttgacctcaagaaggatgtcttcgtgcctgatgacaaa
caggagtttgtcaaggccaagatcgtgtctcgagagggtggcaaaAtcac
tgccgagactgagtatggcaaggtgggtgtcaggctgatgtgagagtcca
ccctggccacctgtacacctgggtggacaga


RESTRICTION ENZYME
restriction enzyme Mae III site lost
fragment sizes, wild-type strand (bp) 182, 103
fragment sizes, mutant strand (bp) 295

 
disease HCM

 
    References and comments
  1. Harada et al., 1992. (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. Muraishi A, Kai H, Adachi K, Nishi H, Imaizumi T.
    Malalignment of the sarcomeric filaments in hypertrophic cardiomyopathy with cardiac myosin heavy chain gene mutation.
    Heart 1999 Nov;82(5):625-9. (PubMed:10525522)
 

citations & disclaimer | contact us

Last modified: April 24, 2006