MYBPC3 mutation Gly523Trp

The Gly523Trp mutation of human cardiac Myosin-Binding Protein C

(other names: G523W )

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	18
nucleotide change	g>t
nucleotide pos. in gene	11014
UCSC Golden Path position	47320762
charge change
codon change	ggg>tgg
transcript change
translation change

mutated amplimer sequence:
ggaggagggggcgcaagtcaaatggtgagttccagaagcacggggcatgg
gtgttgggggcatctgcccagaagaggccacagcacttgccacccaccca
cccggctaggctgaaggacggggtggagctgacccgggaggagaccttca
aataccggttcaagaaggacgggcagagacaccacctgatcatcaacgag
gccatgctggaggacgcgTggcactatgcactgtgcactagcgggggcca
ggcgctggctgagctcattgtgcagggtgagcctggctgggggggcacat
gaggctttagggcttggacccctcagcccccaccccacctagccctgtag
gggagcaggcaaacctgggctcaaggcctctgtgaccttgggcctttgac

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V.
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
Clin Genet 2003 Oct;64(4):339-49. (PubMed:12974739)

citations & disclaimer | contact us

Last modified: April 24, 2006