ACTC mutation Ala297Ser

The Ala297Ser mutation of human cardiac alpha-Actin

(other names: A297S, A295S)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	5
nucleotide change	G>T
nucleotide pos. in gene	4594
UCSC Golden Path position	32870708
amino acid change	Ala>Ser
charge change	0
codon change	GCC>TCC
transcript change	missense
translation change	substitution

mutated amplimer sequence:
ttgacctgaatgcactgtgatgtgtgtgtgtgtgtgtgtgtgtgtgtgtg
tgtgtgtgtgtgtgtgactcgttcccaggtatggaatctgctggcatcca
tgaaacaacttacaatagcatcatgaagtgtgacattgatatccgcaagg
acctgtatTccaacaatgtcttatctggaggcaccactatgtaccctggt
attgctgatcgtatgcagaaggaaatcactgctctggctcctagcaccat
gaagattaaggtaaagaacttttgtgagtgggagatccgaggcaagtctt
ggtattcta

**RESTRICTION ENZYME**
restriction enzyme	Mme I site gained

disease	HCM

References and comments

Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD.
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.
J Clin Invest 1999 May 15;103(10):R39-43. (PubMed:10330430)
Moore, Seidman et al., 2004. (this study)

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Last modified: April 24, 2006