MYH7 mutation Arg663Ser

The Arg663Ser mutation of human beta-cardiac Myosin Heavy Chain

(other names: R663S)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	18
nucleotide change	C>A
nucleotide pos. in gene	12600
UCSC Golden Path position	22965883
amino acid change	Arg>Ser
charge change	-1
codon change	CGC>AGC
transcript change	missense
translation change	substitution, non-conservative

mutated amplimer sequence:
catctctgtgacttctcgaattctctccatctctcttttccttccttctt
ctcctctcttcttcctgcatctctttctggcattttctttacttttctct
attgcatttttggccacaggaaaatctgaacaagctgatgaccaacttgA
gctccacccatccccactttgtacgttgtatcatccctaatgagacaaag
tctccaggtgaggccacaaactagggccaacccactgctgggcatacacc
gccctgggaacaggacctcctaggacatctccctacctaccaccacagtg

**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