Project 3 > Mutation Database > MYBPC3 mutations > Ala534fs

The Ala534fs mutation of human cardiac Myosin-Binding Protein C

(other names:  A534fs, Del GC [11047..11048])

SEQUENCE
exon 18
nucleotide change del GC
nucleotide pos. in gene 11047..11048
UCSC Golden Path position 47320729..47320728
charge change  
codon change  
transcript change Frameshift/ter in exon 17
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