Project 3 > Mutation Database > MYBPC3 mutations > Pro608Leu

The Pro608Leu mutation of human cardiac Myosin-Binding Protein C

(other names:  P608L, P609L)

SEQUENCE
exon 20
nucleotide change c>t
nucleotide pos. in gene 12438
UCSC Golden Path position 47319339
charge change  
codon change cct>ctt
transcript change Missense mutation
translation change  


mutated amplimer sequence:
agaataccaacaagccaggacaaggtgagggcctcctgggaccctggctg
gggtatctggcaaggccaggggtgtgtggcccagtggggtcccctgagcc
actgctcccctgcagggtccacaaactgaccattgacgacgtcacacTtg
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