MYH7 mutation Gly584Ser

The Gly584Ser mutation of human beta-cardiac Myosin Heavy Chain

(other names: G584S)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	16
nucleotide change	G>A
nucleotide pos. in gene	11718
UCSC Golden Path position	22966772
amino acid change	Gly>Ser
charge change	0
codon change	GGC>AGC
transcript change	missense
translation change

mutated amplimer sequence:
ataactgtactcagagctgagcctactaccttaacacccaacatggcacc
tccacgagcaagtatattgaccatagagcagaatccatgtccacctgtgt
gaaggacactcagtgatgctctctcctgcttcctcagcccatgggcatca
tgtccatcctggaagaggagtgcatgttccccaaggccaccgacatgacc
ttcaaggccaagctgtttgacaaccacctgggcaaatccgccaacttcca
gaagccacgcaatatcaaggggaagcctgaagcccacttctccctgatcc
actatgccAgcatcgtggactacaacatcattggctggctgcagaagaac
aaggatcctctcaatgagactgtcgtgggcttgtatcagaagtcttccct
caagctgctcagcaccctgtttgccaactatgctggggctgatgcgcgta
agtagggactgaggctcccggtacagaggagcagggattctgccaaggtt
ctgagccaggtcaattgctacaccccaccacttcaatgtcaggttgtacc
ccaaggtttacagactcagtgggatgga

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V.
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
Clin Genet 2003 Oct;64(4):339-49. (PubMed:12974739)

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Last modified: April 24, 2006