Project 3 > Mutation Database > MYBPC3 mutations > Val757Met

The Val757Met mutation of human cardiac Myosin-Binding Protein C

(other names:  V757M)

SEQUENCE
exon 24
nucleotide change G>A
nucleotide pos. in gene 15091
UCSC Golden Path position 47316686
amino acid changeVal>Met
charge change 0
codon change GTG>ATG
transcript change missense
translation change substitution, conservative


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


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Merk, Seidman et al., 2005. (this study)
 

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Last modified: April 24, 2006