Project 3 > Mutation Database > MYH7 mutations > Tyr501Cys

The Tyr501Cys mutation of human beta-cardiac Myosin Heavy Chain

SEQUENCE
exon 15
nucleotide change A>G
nucleotide pos. in gene 10866
UCSC Golden Path position 22967625
charge change  
codon change  
transcript change  
translation change  


mutated amplimer sequence:
actcacacccactttctgactgctcccacccctcatgccccctgcagttc
aacagctttgagcagctctgcatcaacttcaccaacgagaagctgcagca
gttcttcaaccaccacatgtttgtgctggagcaggaggagtGcaagaagg
agggcatcgagtggacattcattgactttggcatggacctgcaggcctgc
attgacctcatcgagaaggtgcctctttggccttaccacctgaattc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Perrot A, Schmidt-Traub H, Hoffmann B, Prager M, Bit-Avragim N, Rudenko RI, Usupbaeva DA, Kabaeva Z, Imanov B, Mirrakhimov MM, Dietz R, Wycisk A, Tendera M, Gessner R, Osterziel KJ.
    Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
    J Mol Med 2005 Jun;83(6):468-477. Epub 2005 Apr 22. (PubMed:15856146)
 

citations & disclaimer | contact us

Last modified: April 24, 2006