Project 3 > Mutation Database > MYH7 mutations > Glu328Gly

The Glu328Gly mutation of human beta-cardiac Myosin Heavy Chain

(other names:  E328G)

SEQUENCE
exon 11
nucleotide change A>G
nucleotide pos. in gene 8875
UCSC Golden Path position 22969625
amino acid changeGlu>Gly
charge change +1
codon change GAG>GGG
transcript change missense
translation change  


mutated amplimer sequence:
ctgcttcctcaggccatgtgctgtggcgagcagcctccatgagagccggg
ggcttgtgtcccaccctaaccatgttttttcccctagacatgctgctgat
caccaacaacccctacgattatgcattcatctcccaaggagagaccaccg
tggcctccattgatgacgctgaggGgctcatggccactgatgtgagtgtg
tgaggacccagccagggggtgggaggattggcagtgaggggcaaacaggg
gtccaaaagcagagctaagactctggccattggt


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Sawyer et al., 2003. (on-line)
 

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Last modified: April 24, 2006