TNNI3

This page contains an overview of the genetic variation in the TNNI3 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:

TNNI3 gene and transcript details

Gene Name
troponin I type 3 (cardiac)

Gene Links
Ensembl: ENSG00000129991 - Locus Reference Genomic: LRG_432

Genomic Location
Chromosome 19 : 55,663,202 - 55,668,957 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (630 bases)	Protein (210 aa)
	ENST00000344887	ENSP00000341838
	LRG_432t1	LRG_432p1
	NM_000363.4
		P19429

Summary of TNNI3 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

VarType	HCM Freq	ExAC Freq	Case Excess
All	0.02233	0.00228	2.01%
Truncating	0.00099	0.00042	0.06%
Non-Truncating	0.02133	0.00186	1.95%

Based on an analysis of rare variants (MAF<0.0001) in TNNI3 detected in a cohort of 6047 HCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00646	0.00228	0.42%
Truncating	0.00000	0.00042	-0.04%
Non-Truncating	0.00646	0.00186	0.46%

Based on an analysis of rare variants (MAF<0.0001) in TNNI3 detected in a cohort of 1239 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

TNNI3 variants in ExAC

Details of the protein-altering TNNI3 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	93	0.00160
Truncating	8	0.00021
Missense	59	0.00093
Inframe	0	0.00000
Splice Site	26	0.00046

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