Project 3 > Mutation Database > MYH7 mutations > Asp587Val

The Asp587Val mutation of human beta-cardiac Myosin Heavy Chain

(other names:  D587V)

SEQUENCE
exon 16
nucleotide change A>T
nucleotide pos. in exon 182
nucleotide pos. in gene 11728
UCSC Golden Path position 22966762
amino acid changeAspİVal
charge change  
codon change GAC>GTC
transcript change missense
translation change substitution


mutated amplimer sequence:
ataactgtactcagagctgagcctactaccttaacacccaacatggcacc
tccacgagcaagtatattgaccatagagcagaatccatgtccacctgtgt
gaaggacactcagtgatgctctctcctgcttcctcagcccatgggcatca
tgtccatcctggaagaggagtgcatgttccccaaggccaccgacatgacc
ttcaaggccaagctgtttgacaaccacctgggcaaatccgccaacttcca
gaagccacgcaatatcaaggggaagcctgaagcccacttctccctgatcc
actatgccggcatcgtggTctacaacatcattggctggctgcagaagaac
aaggatcctctcaatgagactgtcgtgggcttgtatcagaagtcttccct
caagctgctcagcaccctgtttgccaactatgctggggctgatgcgcgta
agtagggactgaggctcccggtacagaggagcagggattctgccaaggtt
ctgagccaggtcaattgctacaccccaccacttcaatgtcaggttgtacc
ccaaggtttacagactcagtgggatgga


RESTRICTION ENZYME
restriction enzyme Acc I site gained
fragment sizes, wild-type strand (bp) 578
fragment sizes, mutant strand (bp) 319, 259

 
disease HCM

 
    References and comments
  1. Marian AJ, Roberts R.
    Recent advances in the molecular genetics of hypertrophic cardiomyopathy.
    Circulation 1995 Sep 1;92(5):1336-47. (PubMed:7648684)
  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)
 

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Last modified: April 24, 2006