TPM1

This page contains an overview of the genetic variation in the TPM1 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

TPM1 gene and transcript details

Gene Name
tropomyosin 1 (alpha)

Gene Links
Ensembl: ENSG00000140416 - Locus Reference Genomic: LRG_387

Genomic Location
Chromosome 15 : 63,335,029 - 63,358,098 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (852 bases)	Protein (284 aa)
	ENST00000403994	ENSP00000385107
	LRG_387t1	LRG_387p1
	NM_001018005.1

Summary of TPM1 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.01890	0.00086	1.80%
Truncating	0.00180	0.00004	0.18%
Non-Truncating	0.01710	0.00084	1.63%

Based on an analysis of rare variants (MAF<0.0001) in TPM1 detected in a cohort of 1111 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

HCM - Hypertrophic Cardiomyopathy - explore in detail

VarType	HCM Freq	ExAC Freq	Case Excess
All	0.01484	0.00086	1.40%
Truncating	0.00000	0.00004	-0.00%
Non-Truncating	0.01484	0.00084	1.40%

Based on an analysis of rare variants (MAF<0.0001) in TPM1 detected in a cohort of 4447 HCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

TPM1 variants in ExAC

Details of the protein-altering TPM1 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

	Total Variants	Combined frequency of rare variants
All Variants	67	0.00089
Truncating	2	0.00002
Missense	35	0.00042
Inframe	0	0.00000
Splice Site	30	0.00046

Rare variants are defined as having a mean allelic frequency of less than 0.0001.