Project 3 > Mutation Database > MYBPC3 mutations > IVS2-1G>A

The IVS2-1G>A mutation of human cardiac Myosin-Binding Protein C

(other names:  IVS1-1a>g)

SEQUENCE
intron 2
nucleotide change a>g
nucleotide pos. in gene 2176
UCSC Golden Path position 47329633
charge change  
codon change  
transcript change Splice mutation
translation change  


mutated amplimer sequence:
gtgcacgctccaaccaggggccgctgtagcctccacctggcccttcaGtc
tcagcttttagcaagaagccacggtcagtggaagtggccgcaggcagccc
tgccgtgttcgaggccgagacagagcgggcaggagtgaaggtgcgctggc
agcgcggaggcagtgacatcagcgccagcaacaagtacggcctggccaca
gagggcacacggcatacgctgacagtgcgggaagtgggccctgccgacca
gggatcttacgcagtcattgctggctcctccaaggtcaagttcgacctca
aggtcatagaggcaggtaagatcctgatcagccttccctgaggtttgggc
tgctgggggaggggcagcccagcgactctccatccatccagggaacagga
ggtgctttcacactttcttgcctttgctg


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)
 

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Last modified: April 24, 2006