ACTC mutation Glu363Gly

The Glu363Gly mutation of human cardiac alpha-Actin

(other names: E363G, E361G, Glu361Gly)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	6
nucleotide change	A>G
nucleotide pos. in gene	5351
UCSC Golden Path position	32869951
amino acid change	Glu>Gly
charge change	+1
codon change	GAG>GGG
transcript change	missense
translation change	substitution, non-conservative

mutated amplimer sequence:
ttggaacttcagagttcactggaagtttttgttttctttctgcagattat
tgctccccctgagcgtaaatactctgtctggattgggggctccatcctgg
cctctctgtccaccttccagcaaatgtggattagcaagcaagGgtacgat
gaggcaggcccatccattgtccaccgcaaatgcttctaagatgccttctc
tctccatctaccttccagtcaggatgacggtattatgcttctt

**RESTRICTION ENZYME**
None

disease	DCM
clinical consequences	variable age of onset

References and comments

Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT.
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
Science 1998 May 1;280(5364):750-2. (PubMed:9563954)
Wong WW, Doyle TC, Cheung P, Olson TM, Reisler E.
Functional studies of yeast actin mutants corresponding to human cardiomyopathy mutations.
J Muscle Res Cell Motil 2001;22(8):665-74. (PubMed:12222827)

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Last modified: April 24, 2006