Project 3 > Mutation Database > MYH7 mutations > Met493Lys

The Met493Lys mutation of human beta-cardiac Myosin Heavy Chain

(other names:  M493K)

SEQUENCE
exon 15
nucleotide change T>A
nucleotide pos. in gene 10842
UCSC Golden Path position 22967649
amino acid changeMet>Lys
charge change +1
codon change ATG>AAG
transcript change missense
translation change substitution, non-conservative


mutated amplimer sequence:
actcacacccactttctgactgctcccacccctcatgccccctgcagttc
aacagctttgagcagctctgcatcaacttcaccaacgagaagctgcagca
gttcttcaaccaccacaAgtttgtgctggagcaggaggagtacaagaagg
agggcatcgagtggacattcattgactttggcatggacctgcaggcctgc
attgacctcatcgagaaggtgcctctttggccttaccacctgaattc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Gorham, Seidman et al., 2006. (this study)
 

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Last modified: April 24, 2006