Project 3 > Mutation Database > MYBPC3 mutations > Gly416Ser

The Gly416Ser mutation of human cardiac Myosin-Binding Protein C

SEQUENCE
exon 16
nucleotide change G>A
nucleotide pos. in gene 10523
UCSC Golden Path position 47321253
charge change  
codon change  
transcript change  
translation change  


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


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)
  2. 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