ACTC mutation Arg314His

The Arg314His mutation of human cardiac alpha-Actin

(other names: R314H, Arg312His)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	5
nucleotide change	G>A
nucleotide pos. in gene	4646
UCSC Golden Path position	32870656
amino acid change	Arg>His
charge change	0
codon change	CGT>CAT
transcript change	missense
translation change	substitution, conservative

mutated amplimer sequence:
ttgacctgaatgcactgtgatgtgtgtgtgtgtgtgtgtgtgtgtgtgtg
tgtgtgtgtgtgtgtgactcgttcccaggtatggaatctgctggcatcca
tgaaacaacttacaatagcatcatgaagtgtgacattgatatccgcaagg
acctgtatgccaacaatgtcttatctggaggcaccactatgtaccctggt
attgctgatcAtatgcagaaggaaatcactgctctggctcctagcaccat
gaagattaaggtaaagaacttttgtgagtgggagatccgaggcaagtctt
ggtattcta

**RESTRICTION ENZYME**
restriction enzyme	Bcl I site lost

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)

citations & disclaimer | contact us

Last modified: April 24, 2006