MYH7 mutation Gly571Arg

The Gly571Arg mutation of human beta-cardiac Myosin Heavy Chain

(other names: G571R)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	16
nucleotide change	unspecified
nucleotide pos. in gene	11679
UCSC Golden Path position
amino acid change	Gly>Arg
charge change	+1
codon change
transcript change	missense
translation change	substitution, non-conservative

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Mohiddin SA, Begley DA, McLam E, Cardoso JP, Winkler JB, Sellers JR, Fananapazir L.
Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
Genet Test 2003 Spring;7(1):21-7. (PubMed:12820698)

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Last modified: April 24, 2006