Project 3 > Mutation Database > MYL3 mutations > Glu56Gly

The Glu56Gly mutation of human cardiac Essential Myosin Light Chain

SEQUENCE
exon 3
nucleotide change A>G
nucleotide pos. in gene 3626
UCSC Golden Path position 46877310
charge change  
codon change GAA>GGA
transcript change  
translation change  


mutated amplimer sequence:
tgctggaatgggacaggctgagacagttgacattctgggctggccaccga
gtgcccaggaggaggtgtggccccaccttttaagccgggcatctgagtct
ttggggtctcttttcagattgagttcacacctgagcagattgaaggtgag
caggggtcttgaacccaggggttgcaggattgggctggggttccctggtc
tgagggtcctgccaggggtgtggggagtggggtaggctgaccctgggagt
gtctgtggctcactgccctctcctggcagagttcaaggGagccttcatgc
tgttcgaccgcacacccaagtgtgagatgaagatcacctacgggcagtgt
ggggatgt


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M.
    Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
    Circulation 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. (PubMed:12707239)
 

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Last modified: April 24, 2006