MYBPC3 mutation Gly279Ala

The Gly279Ala mutation of human cardiac Myosin-Binding Protein C

(other names: G279A)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	9
nucleotide change	g>c
nucleotide pos. in gene	6014
UCSC Golden Path position	47325793
charge change
codon change	ggt>gct
transcript change	Missense
translation change

mutated amplimer sequence:
gggctggggatgatttgcggggcggagctgaagtcagtgggggctgcagg
ggagagcaagcttcccaggcaggtgaggatactgagtctaacccccacag
gagcctggctggagCtggtcggcggatcaggtacccctgccccaggccct
acctgcaccatccgcagacccccaggggtctgagacgggtgggagcccaa
tctggctagtgtccctttctccctcc

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M.
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Circulation 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. (PubMed:12707239)

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Last modified: April 24, 2006