Project 3 > Mutation Database > MYH7 mutations > Gly425Arg

The Gly425Arg mutation of human beta-cardiac Myosin Heavy Chain

SEQUENCE
exon 14
nucleotide change G>A
nucleotide pos. in gene 10353
UCSC Golden Path position 22968138
charge change  
codon change  
transcript change  
translation change  


mutated amplimer sequence:
caagttcactcttcccaacaaccctgctcaatatgggtctctcctccacc
ttgcaggtgatatatgccactAgggcactggccaaggcagtgtatgagag
gatgttcaactggatggtgacgcgcatcaatgccaccctggagaccaagc
agccacgccagtacttcataggagtcctggacatcgctggcttcgagatc
ttcgatgtgagttgggacccctgggagtgggagaacaatcactcactcgc
tcccacat


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Song L, Zou Y, Wang J, Wang Z, Zhen Y, Lou K, Zhang Q, Wang X, Wang H, Li J, Hui R.
    Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
    Clin Chim Acta 2005 Jan;351(1-2):209-16. (PubMed:15563892)
 

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Last modified: April 24, 2006