Project 3 > Mutation Database > MYBPC3 mutations > Val219Leu

The Val219Leu mutation of human cardiac Myosin-Binding Protein C

(other names:  V219L, V219L)

SEQUENCE
exon 7
nucleotide change g>c
nucleotide pos. in gene 5139
UCSC Golden Path position 47326668
charge change  
codon change gtc>ctc
transcript change Missense mutation
translation change  


mutated amplimer sequence:
ctggagctcctggtcttatgtgatccgcccgcctcagcctcccaaagtgg
ggattacaggcctgagccaccgcgcccggccactcccagtctcctttaag
ggtgcggagccttgtctcccggcccctggtgtcccctgacgccccgtccc
tccatgcacacagCtctatctgttcgagctgcacatcaccgatgcccagc
ctgccttcactggcagctaccgctgtgaggtgtccaccaaggacaaattt
gactgctccaacttcaatctcactgtccacggtgagggggccctggtgtc
tgtcctgggctcgggctccccatgggtcctggtctcctacctccttttcc
caacactaaggaggatgcctcgtcccatccagacatgagtgctggccacg
tgcccagtgctgcacacacagggtgtgagagaaaccccaaggcttgcagg
gtaggcgtgggggcttagggctgagtccgggtctcatctgggtgggactc
tgttttatcatcttggtgtcacggctcc


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