MYBPC3 mutation Arg733Cys

The Arg733Cys mutation of human cardiac Myosin-Binding Protein C

(other names: R733C, R733C)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	24
nucleotide change	c>t
nucleotide pos. in gene	15019
UCSC Golden Path position	47316758
charge change
codon change	cgc>tgc
transcript change	Missense mutation
translation change

mutated amplimer sequence:
tcggtgccacagagatgattttgaactagatgctgacgtggatgcagtct
tcccacaggctgtgttccccccatggacccccgggacatctggctgttgg
cggaggctgcaagggcctctggggtctgacttggatctcaccccaactct
gcacccccccagctgctgtgtgagaccgagggccgggtccgcgtggagac
caccaaggacTgcagcatcttcacggtcgagggggcagagaaggaagatg
agggcgtctacacggtcacagtgaagaaccctgtgggcgaggaccaggtc
aacctcacagtcaaggtcatcggtgaggccggccggggtccaagctggag
aacacagaggggcagcc

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ.
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
J Am Coll Cardiol 2004 Nov 2;44(9):1903-10. (PubMed:15519027)
- Not present in 400 reference alleles.

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Last modified: April 24, 2006