Project 3 > Mutation Database > MYBPC3 mutations > Tyr749ter

The Tyr749ter mutation of human cardiac Myosin-Binding Protein C

(other names:  , )

SEQUENCE
exon 24
nucleotide change unspecified
nucleotide pos. in gene 15069
UCSC Golden Path position 47316708
charge change  
codon change  
transcript change nonsense
translation change truncation
commentAmbiguous mutant allele, TAC> TAA or TAG


RESTRICTION ENZYME
no information

 
disease HCM
clinical consequencesEarly onset HCM

 
    References and comments
  1. Carballo S, Blair E, Watkins H.
    Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
    Circulation 2005, 112(17):II-411, abstract #2003 (abstract)
 

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Last modified: April 24, 2006