Project 3 > Mutation Database > MYBPC3 mutations > IVS23-2delA

The IVS23-2delA mutation of human cardiac Myosin-Binding Protein C

SEQUENCE
intron 23
nucleotide change del A
nucleotide pos. in gene 14969
UCSC Golden Path position 47316808
charge change  
codon change  
transcript change  
translation change  


mutated amplimer sequence:
tcggtgccacagagatgattttgaactagatgctgacgtggatgcagtct
tcccacaggctgtgttccccccatggacccccgggacatctggctgttgg
cggaggctgcaagggcctctggggtctgacttggatctcaccccaactct
gcaccccccCGctgctgtgtgagaccgagggccgggtccgcgtggagacc
accaaggaccgcagcatcttcacggtcgagggggcagagaaggaagatga
gggcgtctacacggtcacagtgaagaaccctgtgggcgaggaccaggtca
acctcacagtcaaggtcatcggtgaggccggccggggtccaagctggaga
acacagaggggcagcc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M.
    The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
    Eur Heart J 2003 Oct;24(20):1848-53. (PubMed:14563344)
 

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Last modified: April 24, 2006