Dilated cardiomyopathy 1FF: genes and variants
Dilated cardiomyopathy 1FF is linked to 2 analyzed proteins (TNNI3 and TNNC1). 7 DNA variants are known to cause it; 4 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Dilated cardiomyopathy 1FF
TNNI3: Troponin I, cardiac muscle
It restrains cardiac actin-myosin interaction at low calcium and shifts position within the troponin complex when calcium binds, allowing contraction. Pathogenic variants can alter thin-filament calcium sensitivity and cause hypertrophic, restrictive, or dilated cardiomyopathy.
7 disease-causing and 4 uncertain variants in TNNI3 are linked to Dilated cardiomyopathy 1FF.
TNNC1: Troponin C, slow skeletal and cardiac muscles
It binds calcium during each heartbeat and shifts the troponin complex to permit actin-myosin interaction and force generation in cardiac muscle. Pathogenic variants can alter calcium sensitivity and cause hypertrophic or dilated cardiomyopathy.
0 disease-causing and 0 uncertain variants in TNNC1 are linked to Dilated cardiomyopathy 1FF.
Known disease-causing variants in Dilated cardiomyopathy 1FF
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TNNI3 R145Q | 145 | Involved in binding TNC and actin | Disease-causing (★★) |
| TNNI3 R145W | 145 | Involved in binding TNC and actin | Disease-causing (★★) |
| TNNI3 E182K | 182 | Disease-causing (★★) | |
| TNNI3 D196N | 196 | Disease-causing (★★) | |
| TNNI3 E179G | 179 | Disease-causing (★) | |
| TNNI3 K36Q | 36 | Involved in binding TNC | Disease-causing |
| TNNI3 N185K | 185 | Disease-causing |
Same protein, different disease
- Hypertrophic cardiomyopathy is also caused by TNNI3 variants; they fall mostly in different places as the Dilated cardiomyopathy 1FF variants (24 disease-causing).
- Cardiomyopathy, familial restrictive, 3 is also caused by TNNI3 variants; they fall mostly in different places as the Dilated cardiomyopathy 1FF variants (9 disease-causing).
Diseases related to Dilated cardiomyopathy 1FF
- Hypertrophic cardiomyopathy, also linked to TNNC1 and TNNI3
- Dilated cardiomyopathy, also linked to TNNC1 and TNNI3
- Cardiomyopathy, familial restrictive, 3, also linked to TNNC1 and TNNI3
- Restrictive cardiomyopathy, also linked to TNNC1 and TNNI3
- Familial isolated dilated cardiomyopathy, also linked to TNNC1 and TNNI3
- Primary dilated cardiomyopathy, also linked to TNNI3
- Primary familial hypertrophic cardiomyopathy, also linked to TNNI3
Frequently asked questions
Which genes are linked to Dilated cardiomyopathy 1FF?
In CATVariant, Dilated cardiomyopathy 1FF is linked to 2 analyzed proteins: TNNI3 (Troponin I, cardiac muscle) and TNNC1 (Troponin C, slow skeletal and cardiac muscles).
How many genetic variants are linked to Dilated cardiomyopathy 1FF?
23 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dilated cardiomyopathy 1FF look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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