Project 3 > Mutation Database > ACTC mutations > Met307Leu

The Met307Leu mutation of human cardiac alpha-Actin

(other names:  M307L, M305L)

SEQUENCE
exon 5
nucleotide change unspecified
nucleotide pos. in gene 4624
UCSC Golden Path position 32870678
amino acid changeMet>Leu
charge change 0
codon change  
transcript change missense
translation change substitution


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Mogensen J, Perrot A, Andersen PS, Havndrup O, Klausen IC, Christiansen M, Bross P, Egeblad H, Bundgaard H, Osterziel KJ, Haltern G, Lapp H, Reinecke P, Gregersen N, Borglum AD.
    Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.
    J Med Genet 2004 Jan;41(1):e10. (PubMed:14729850)
 

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Last modified: April 24, 2006