Project 3 > Mutation Database > MYBPC3 mutations > Met348fs

The Met348fs mutation of human cardiac Myosin-Binding Protein C

(other names:  Arg346fs)

SEQUENCE
exon 13
nucleotide change dup CGGCA
nucleotide pos. in gene 7421..7425
UCSC Golden Path position 47324386..47324382
charge change  
codon change  
transcript change frameshift
translation change out-of-frame translation


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Xie WL, Liu WL, Hu DY, Cui W, Zhu TG, Li CL, Sun YH, Li L, Bian H.
    [A frame shift mutation, Arg346fs mutation, is identified in cardiac myosin-binding protein C gene in a Chinese family with hypertrophic cardiomyopathy]
    Zhonghua Yi Xue Za Zhi. 2005 Apr 13;85(14):963-6. (PubMed:16061003)
 

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Last modified: April 24, 2006