Project 3 > Mutation Database > MYBPC3 mutations > Asp604Val

The Asp604Val mutation of human cardiac Myosin-Binding Protein C

(other names:  D604V, D604V)

SEQUENCE
exon 20
nucleotide change a>t
nucleotide pos. in gene 12426
UCSC Golden Path position 47319351
charge change  
codon change gac>gtc
transcript change Missense mutation
translation change  


mutated amplimer sequence:
agaataccaacaagccaggacaaggtgagggcctcctgggaccctggctg
gggtatctggcaaggccaggggtgtgtggcccagtggggtcccctgagcc
actgctcccctgcagggtccacaaactgaccattgTcgacgtcacacctg
ccgacgaggctgactacagctttgtgcccgagggcttcgcctgcaacctg
tcagccaagctccacttcatgggtgagcctgctccagggtagggtgggtc
ggggcagtggggccaggagcccctgtcactgggccctgcctttgcccccg
tgctacttgctcttccttctcttgcagaggtcaagattgacttcgtaccc
aggcagggtaagtcttggggcccctgagtcttggttctgctcactttccc
gc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ.
    Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
    J Am Coll Cardiol 2004 Nov 2;44(9):1903-10. (PubMed:15519027)
 

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Last modified: April 24, 2006