TTR

This page contains an overview of the genetic variation in the TTR 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:

TTR gene and transcript details

Gene Name
transthyretin

Gene Links
Ensembl: ENSG00000118271 - Locus Reference Genomic: LRG_416

Genomic Location
Chromosome 18 : 29,171,866 - 29,178,638 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (441 bases)	Protein (147 aa)
	ENST00000237014	ENSP00000237014
	LRG_416t1	LRG_416p1
	NM_000371.3
		P02766

Summary of TTR in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

VarType	HCM Freq	ExAC Freq	Case Excess
All	0.00316	0.00140	0.18%
Truncating	0.00000	0.00004	-0.00%
Non-Truncating	0.00316	0.00136	0.18%

Based on an analysis of rare variants (MAF<0.0001) in TTR detected in a cohort of 632 HCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	ExAC Freq	Case Excess
All	0.00140	-0.14%
Truncating	0.00004	-0.00%
Non-Truncating	0.00136	-0.14%

Based on an analysis of rare variants (MAF<0.0001) in TTR detected in a cohort of 121 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

TTR variants in ExAC

Details of the protein-altering TTR 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	60	0.00086
Truncating	3	0.00002
Missense	43	0.00064
Inframe	3	0.00003
Splice Site	11	0.00016

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