Project 3 > Mutation Database > MYH7 mutations > Leu227Val

The Leu227Val mutation of human beta-cardiac Myosin Heavy Chain

(other names:  L227V)

SEQUENCE
exon 8
nucleotide change C>G
nucleotide pos. in gene 7811
UCSC Golden Path position 22970687
amino acid changeLeu>Val
charge change 0
codon change CTG>GTG
transcript change missense
translation change  


mutated amplimer sequence:
gccctccaaggtcctgtaccgcagaagggagggagaagagctctcacctg
cctccttcttggcctctgcagggcaccctggaggaccagatcatccaggc
caaccctgctGtggaggcctttggcaatgccaagaccgtccggaacgaca
actcctcccgcttcgtgagtggtccctgaccttggccttgggacttggac


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