Project 3 > Mutation Database > MYBPC3 mutations > Lys600fs

The Lys600fs mutation of human cardiac Myosin-Binding Protein C

(other names:  K600fs, Del A 12413)

SEQUENCE
exon 20
nucleotide change del A
nucleotide pos. in gene 12413
UCSC Golden Path position 47319364
charge change  
codon change  
transcript change Frameshift/ter in exon 19
translation change  


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M.
    Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
    Circulation 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. (PubMed:12707239)
 

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Last modified: April 24, 2006