Disease-causing mutations in TPM1

Disease-causing mutations in the human alpha-Tropomyosin gene

**hypertrophic cardiomyopathy mutations**
Mutation	Disease	position in TPM1_genomic.fas	UCSC hg17 position	exon/intron
Glu62Gln	HCM	2324	61123348	2
Ala63Val	HCM	2328	61123352	2
Lys70Thr	HCM	2349	61123373	2
Val95Ala	HCM	15256	61136280	3
Ile172Thr	HCM	19119	61140143	5
Asp175Asn	HCM	19127	61140151	5
Glu180Gly	HCM	19143	61140167	5
Glu180Val	HCM	19143	61140167	5
Leu185Arg	HCM	19158	61140182	5
Glu192Lys	HCM	19951	61140975	6
Met281Thr	HCM	22361	61143385	9

dilated cardiomyopathy mutations
Mutation Disease position in TPM1_genomic.fas UCSC hg17 position exon/intron

Glu40Lys DCM 2258 61123282 2
Glu54Lys DCM 2300 61123324 2

**dilated cardiomyopathy mutations**
Mutation	Disease	position in TPM1_genomic.fas	UCSC hg17 position	exon/intron
Glu40Lys	DCM	2258	61123282	2
Glu54Lys	DCM	2300	61123324	2

polymorphisms
Variant Disease position in TPM1_genomic.fas UCSC hg17 position exon/intron

Gln135Lys none 17819 61138843 4

**polymorphisms**
Variant	Disease	position in TPM1_genomic.fas	UCSC hg17 position	exon/intron
Gln135Lys	none	17819	61138843	4

Last modified: April 24, 2006