Project 3 > Mutation Database > MYH7 mutations > Arg453His

The Arg453His mutation of human beta-cardiac Myosin Heavy Chain

(other names:  R453H)

SEQUENCE
exon 14
nucleotide change G>A
nucleotide pos. in gene 10438
UCSC Golden Path position 22968053
amino acid changeArg>His
charge change 0
codon change CGC>CAC
transcript change missense
translation change  


mutated amplimer sequence:
caagttcactcttcccaacaaccctgctcaatatgggtctctcctccacc
ttgcaggtgatatatgccactggggcactggccaaggcagtgtatgagag
gatgttcaactggatggtgacgcgcatcaatgccaccctggagaccaagc
agccacAccagtacttcataggagtcctggacatcgctggcttcgagatc
ttcgatgtgagttgggacccctgggagtgggagaacaatcactcactcgc
tcccacat


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Haluza et al., 2000. (on-line)
 

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Last modified: April 24, 2006