ACTC mutation Ala232Val

The Ala232Val mutation of human cardiac alpha-Actin

(other names: A232V)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	4
nucleotide change	C>T
nucleotide pos. in gene	3606
UCSC Golden Path position	32871696
amino acid change	Ala>Val
charge change	0
codon change	GCT>GTT
transcript change	missense
translation change	substitution

mutated amplimer sequence:
ttcttgcttcagagcatgactgtgatactctttatttctgtagctgaacg
tgaaattgtccgtgacattaaagagaagctgtgctatgtcgccctggatt
ttgagaatgagatggccacagTtgcctcttcctcctccctggagaagagc
tatgaactgcctgatggccaagtcatcactattggcaatgagcgcttccg
ctgtcctgagacactcttccagccctccttcattggtgagttgtagggtc
tggtgcagaggcacgattttccctggaaatctt

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ.
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
Circulation 2003 Jul 29;108(4):445-51. Epub 2003 Jul 14. (PubMed:12860912)

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Last modified: April 24, 2006