Project 3 > Mutation Database > MYH7 mutations > Phe244Leu

The Phe244Leu mutation of human beta-cardiac Myosin Heavy Chain

(other names:  F244L)

SEQUENCE
exon 8
nucleotide change unspecified
nucleotide pos. in gene 7863..7864
UCSC Golden Path position 22970635..22970634
amino acid changePheŻLeu
charge change  
codon change  
transcript change missense
translation change substitution


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Fananapazir et al., 1994. (abstract)
  2. Rayment I, Holden HM, Sellers JR, Fananapazir L, Epstein ND.
    Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
    Proc Natl Acad Sci U S A 1995 Apr 25;92(9):3864-8. (PubMed:7731997)
 

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Last modified: April 24, 2006