MYBPC3 mutation Cys566Arg

The Cys566Arg mutation of human cardiac Myosin-Binding Protein C

(other names: C566R)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	19
nucleotide change	T>C
nucleotide pos. in gene	11564
UCSC Golden Path position	47320212
amino acid change	Cys>Arg
charge change	+1
codon change	TGT>CGT
transcript change	missense
translation change	substitution

mutated amplimer sequence:
acaggcacacgtgttttcacatgcccacatgcacccagacacgtgcgcac
cagcgcccatgggcccacacgccctccacagggattcacgccacacccac
acaccctcccgagctcaatggctctgccctgccctgcagaaaagaagctg
gaggtgtaccagagcatcgcagacctgatggtgggcgcaaaggaccaggc
ggtgttcaaaCgtgaggtctcagatgagaatgttcggggtgtgtggctga
agaatgggaaggagctggtgcccgacagccgcataaaggtgtcccacatc
gggcggtgagtgtgcagggcaggtggatgggacaggtggagactg

**RESTRICTION ENZYME**
restriction enzyme	Tai I site gained

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