MYBPC3 mutation His390fs

The His390fs mutation of human cardiac Myosin-Binding Protein C

(other names: His309fs, delC390)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	14
nucleotide change	del C
nucleotide pos. in gene	10102
UCSC Golden Path position	47321674
charge change
codon change
transcript change	frameshift
translation change	truncation

mutated amplimer sequence:
ggcggcacagaggggattggagggggggacctgggccccagccacagcca
cagtagcttggcctgggggagcagggtgcgggcggtggggtggtcggggc
tgaggggtggtgctcagcctttcagaagaagctggagccggcctaccagg
tgagcaaaggccacaagatccggctgaccgtggaactggctgaCAtgacg
ctgaggtcaaatggctcaagaatggccaggagatccagatgagcggcagg
tgcagcctggggtggggaggggggctcgggtggaggtggggacccccata
gccttgcctcctgcccctctccacatgcgtatctctgactcggtgtggct
ctcagccccatctctctgggcctaatttcccatccttttgctcctgccgg
t

**RESTRICTION ENZYME**
no information

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