Project 3 > Mutation Database > MYH7 mutations > Glu500Ala

The Glu500Ala mutation of human beta-cardiac Myosin Heavy Chain

(other names:  E500A)

SEQUENCE
exon 15
nucleotide change A>C
nucleotide pos. in gene 10863
UCSC Golden Path position
amino acid changeGlu>Ala
charge change +1
codon change GAG>GCG
transcript change missense
translation change substitution, non-conservative


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Mohiddin SA, Begley DA, McLam E, Cardoso JP, Winkler JB, Sellers JR, Fananapazir L.
    Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
    Genet Test 2003 Spring;7(1):21-7. (PubMed:12820698)
 

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Last modified: April 24, 2006