Disease-causing mutations in ACTC

Disease-causing mutations in the human cardiac alpha-Actin gene

**hypertrophic cardiomyopathy mutations**
Mutation	Disease	position in ACTC_genomic.fas	UCSC hg17 position	exon/intron
Glu101Lys	HCM	2411	32872891	2
Pro166Ala	HCM	3281	32872021	3
Tyr168Cys	HCM	3288	32872014	3
Ala232Val	HCM	3606	32871696	4
Ala297Ser	HCM	4594	32870708	5
Met307Leu	HCM	4624	32870678	5
Ala333Pro	HCM	5260	32870042	6

dilated cardiomyopathy mutations
Mutation Disease position in ACTC_genomic.fas UCSC hg17 position exon/intron

Arg314His DCM 4646 32870656 5
Glu363Gly DCM 5351 32869951 6

**dilated cardiomyopathy mutations**
Mutation	Disease	position in ACTC_genomic.fas	UCSC hg17 position	exon/intron
Arg314His	DCM	4646	32870656	5
Glu363Gly	DCM	5351	32869951	6

Last modified: April 24, 2006