MYH7 mutation Arg204His

The Arg204His mutation of human beta-cardiac Myosin Heavy Chain

(other names: R204H)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	7
nucleotide change	G>A
nucleotide pos. in gene	7661
UCSC Golden Path position	22970838
amino acid change	Arg>His
charge change	0
codon change	CGC>CAC
transcript change	missense
translation change

mutated amplimer sequence:
cttgctggtctccagtagtattgttcactgcccaataagcccctgtcttc
acagcggagaatccggagcagggaagacagtcaacaccaagagggtcatc
cagtactttgctgttattgcagccattggggaccAcagcaagaaggacca
gagcccgggcaaggtaggcctgctgccctccaaggtcctgtaccgcag

**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