MYH7 mutation Arg652Gly

The Arg652Gly mutation of human beta-cardiac Myosin Heavy Chain

(other names: R652G)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	17
nucleotide change	A>G
nucleotide pos. in gene	12193
UCSC Golden Path position	22966291
amino acid change	ArgÝGly
charge change
codon change	AGG>GGG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
gcaaatgccagcaaggatgtaaagaggggctgtgatcttactcacaccct
acctccccacactgatgcttcttttgttgactctccttcctgcagctatt
gagaagggcaaaggcaaggccaagaaaggctcgtcctttcagactgtgtc
agctctgcacGgggtgagtgggacacagccccagccaacttggctcccca
tctgcccaaccccacccagccccacccttccctgccttgttcatccccta
ctcctcccgttccctgtctccttggtgcattcgggaccattttcactctg
tcttctcttcccgtcatctcctggcctcttcacttatttacttcccatct
cccttctct

**RESTRICTION ENZYME**
no information

disease	HCM

Date this novel mutation was originally posted on this website: 8/31/2001

References and comments

Gruver et al., 2001. (direct submission)

Clinical features of individuals in this study having the MYH7:Arg652Gly mutation.
pedigree	sex	height (in.)	weight (lb.)	age of onset	age at exam	LVWT, mm.	LVED	LVES	LA	EF, %	diagnosis
CP					17	10	48		32		HCM
CP	M	68	165	20	24	16	38	20	55	65	HCM
CP				20	23	11	52	34	30	63	HCM

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Last modified: April 24, 2006