Project 3 > Mutation Database > MYBPC3 mutations > Phe412fs

The Phe412fs mutation of human cardiac Myosin-Binding Protein C

(other names:  F412fs, I411 fs/0)

SEQUENCE
exon 16
nucleotide change del TT
nucleotide pos. in gene 10512..10513
UCSC Golden Path position 47321264..47321263
charge change  
codon change  
transcript change frameshift
translation change  


mutated amplimer sequence:
aacacttcaacggccccttctgttctacagcaagtaagttcccctctgga
tggcttggggtggggggcacagggattatcacggggcgcactgggcccgg
aggggtgtccgcagctttcctgccacttccctgcggcccccacccaggta
catcTGagtccatcggtgccaagcgtaccctgaccatcagccagtgctca
ttggcggacgacgcagcctaccagtgcgtggtgggtggcgagaagtgtag
cacggagctctttgtgaaaggtgggcctgggacctgaggatgtgggaacc
tggggaggagatggcctcaggggagccaaccctcatgctcaccctgcctg
gacagagccccctgtgctcatcacgcgccccttggaggaccagctggtga
tggtggggcagcgggtggagtttgagtgtgaagtatcggaggagggggc


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)
  2. 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