Project 3 > Mutation Database > MYBPC3 mutations > Gly758Asp

The Gly758Asp mutation of human cardiac Myosin-Binding Protein C

SEQUENCE
exon 24
nucleotide change G>A
nucleotide pos. in gene 15095
UCSC Golden Path position 47316682
charge change  
codon change  
transcript change  
translation change  


mutated amplimer sequence:
tcggtgccacagagatgattttgaactagatgctgacgtggatgcagtct
tcccacaggctgtgttccccccatggacccccgggacatctggctgttgg
cggaggctgcaagggcctctggggtctgacttggatctcaccccaactct
gcacccccccagctgctgtgtgagaccgagggccgggtccgcgtggagac
caccaaggaccgcagcatcttcacggtcgagggggcagagaaggaagatg
agggcgtctacacggtcacagtgaagaaccctgtggAcgaggaccaggtc
aacctcacagtcaaggtcatcggtgaggccggccggggtccaagctggag
aacacagaggggcagcc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Song L, Zou Y, Wang J, Wang Z, Zhen Y, Lou K, Zhang Q, Wang X, Wang H, Li J, Hui R.
    Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
    Clin Chim Acta 2005 Jan;351(1-2):209-16. (PubMed:15563892)
 

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Last modified: April 24, 2006