Project 3 > Mutation Database > MYH7 mutations > Glu497Asp

The Glu497Asp mutation of human beta-cardiac Myosin Heavy Chain

(other names:  E497D)

SEQUENCE
exon 15
nucleotide change G>T
nucleotide pos. in gene 10855
UCSC Golden Path position 22967636
amino acid changeGlu>Asp
charge change 0
codon change GAG>GAT
transcript change missense
translation change substitution, conservative


mutated amplimer sequence:
actcacacccactttctgactgctcccacccctcatgccccctgcagttc
aacagctttgagcagctctgcatcaacttcaccaacgagaagctgcagca
gttcttcaaccaccacatgtttgtgctggaTcaggaggagtacaagaagg
agggcatcgagtggacattcattgactttggcatggacctgcaggcctgc
attgacctcatcgagaaggtgcctctttggccttaccacctgaattc


RESTRICTION ENZYME
restriction enzyme Bpm I site lost
fragment sizes, wild-type strand (bp) 147, 100
fragment sizes, mutant strand (bp) 247

 
disease HCM

 

Date this novel mutation was originally posted on this website:   9/28/2001

    References and comments
  1. Barr, Seidman et al., 2001. (this study)
  2. Arad M, Penas-Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY, Barr S, Karim A, Olson TM, Kamisago M, Seidman JG, Seidman CE.
    Gene mutations in apical hypertrophic cardiomyopathy.
    Circulation. 2005 Nov 1;112(18):2805-11. (PubMed:16267253)
 

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Last modified: April 24, 2006