MYBPC3 mutation Arg282Trp

The Arg282Trp mutation of human cardiac Myosin-Binding Protein C

(other names: R282W)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	9
nucleotide change	C>T
nucleotide pos. in gene	6022
UCSC Golden Path position	47325785
amino acid change	Arg>Trp
charge change	-1
codon change	CGG>TGG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
gggctggggatgatttgcggggcggagctgaagtcagtgggggctgcagg
ggagagcaagcttcccaggcaggtgaggatactgagtctaacccccacag
gagcctggctggaggtggtcggTggatcaggtacccctgccccaggccct
acctgcaccatccgcagacccccaggggtctgagacgggtgggagcccaa
tctggctagtgtccctttctccctcc

**RESTRICTION ENZYME**
restriction enzyme	Aci 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)

citations & disclaimer | contact us

Last modified: April 24, 2006