Project 3 > Mutation Database > MYBPC3 mutations > Gln425ter

The Gln425ter mutation of human cardiac Myosin-Binding Protein C

(other names:  Q425X)

SEQUENCE
exon 16
nucleotide change C>T
nucleotide pos. in gene 10550
UCSC Golden Path position 47321226
charge change  
codon change CAG>TAG
transcript change nonsense
translation change truncation


mutated amplimer sequence:
aacacttcaacggccccttctgttctacagcaagtaagttcccctctgga
tggcttggggtggggggcacagggattatcacggggcgcactgggcccgg
aggggtgtccgcagctttcctgccacttccctgcggcccccacccaggta
catctttgagtccatcggtgccaagcgtaccctgaccatcagcTagtgct
cattggcggacgacgcagcctaccagtgcgtggtgggtggcgagaagtgt
agcacggagctctttgtgaaaggtgggcctgggacctgaggatgtgggaa
cctggggaggagatggcctcaggggagccaaccctcatgctcaccctgcc
tggacagagccccctgtgctcatcacgcgccccttggaggaccagctggt
gatggtggggcagcgggtggagtttgagtgtgaagtatcggaggaggggg
c


RESTRICTION ENZYME
restriction enzyme Bfa I site gained

 
disease HCM
clinical consequenceselderly-onset

 
    References and comments
  1. Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE.
    Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
    Circulation 2002 Jan 29;105(4):446-51. (PubMed:11815426)
 

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Last modified: April 24, 2006