Project 3 > Mutation Database > MYH7 mutations > Met515Arg

The Met515Arg mutation of human beta-cardiac Myosin Heavy Chain

(other names:  M515R)

SEQUENCE
exon 15
nucleotide change T>G
nucleotide pos. in gene 10908
UCSC Golden Path position 22967583
amino acid changeMet>Arg
charge change +1
codon change ATG>AGG
transcript change missense
translation change  


mutated amplimer sequence:
actcacacccactttctgactgctcccacccctcatgccccctgcagttc
aacagctttgagcagctctgcatcaacttcaccaacgagaagctgcagca
gttcttcaaccaccacatgtttgtgctggagcaggaggagtacaagaagg
agggcatcgagtggacattcattgactttggcaGggacctgcaggcctgc
attgacctcatcgagaaggtgcctctttggccttaccacctgaattc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. 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)
 

citations & disclaimer | contact us

Last modified: April 24, 2006