MYBPC3 mutation Gly531Arg

The Gly531Arg mutation of human cardiac Myosin-Binding Protein C

(other names: G531R)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	18
nucleotide change	G>C
nucleotide pos. in gene	11038
UCSC Golden Path position	47320738
amino acid change	Gly>Arg
charge change	+1
codon change	GGG>CGG
transcript change	missense
translation change	substitution

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

**RESTRICTION ENZYME**
restriction enzyme	Fnu4H site lost

disease	HCM

Date this novel mutation was originally posted on this website: 2/17/2004

References and comments

Merk, Seidman et al., 2004. (this study)

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Last modified: April 24, 2006