MYBPC3 mutation IVS20-2A>G

The IVS20-2A>G mutation of human cardiac Myosin-Binding Protein C

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
intron	20
nucleotide change	A>G
nucleotide pos. in gene	12616
UCSC Golden Path position	47319161
charge change
codon change
transcript change
translation change

mutated amplimer sequence:
agaataccaacaagccaggacaaggtgagggcctcctgggaccctggctg
gggtatctggcaaggccaggggtgtgtggcccagtggggtcccctgagcc
actgctcccctgcagggtccacaaactgaccattgacgacgtcacacctg
ccgacgaggctgactacagctttgtgcccgagggcttcgcctgcaacctg
tcagccaagctccacttcatgggtgagcctgctccagggtagggtgggtc
ggggcagtggggccaggagcccctgtcactgggccctgcctttgcccccg
tgctacttgctcttccttctcttgcGgaggtcaagattgacttcgtaccc
aggcagggtaagtcttggggcccctgagtcttggttctgctcactttccc
gc

**RESTRICTION ENZYME**
restriction enzyme	Pst I site lost

disease	HCM

References and comments

Erdmann J, Raible J, Maki-Abadi J, Hummel M, Hammann J, Wollnik B, Frantz E, Fleck E, Hetzer R, Regitz-Zagrosek V.
Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
J Am Coll Cardiol 2001 Aug;38(2):322-30. (PubMed:11499719)

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Last modified: April 24, 2006