TNNT1
Chr 19ARADtroponin T1, slow skeletal type
Also known as: ANM, NEM5, STNT, TNT, TNTS
Encodes slow skeletal troponin T, which binds tropomyosin and regulates striated muscle contraction in response to intracellular calcium fluctuations as part of the troponin complex. Mutations cause nemaline myopathy type 5, presenting as severe infantile disease with respiratory insufficiency and death by age 2 years (autosomal recessive) or milder childhood-onset forms (autosomal recessive or dominant inheritance). The pathogenic mechanism involves rod-shaped nemaline inclusions in skeletal muscle fibers leading to progressive muscle weakness.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TNNT1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Aging Resilience Through Microbiota Optimization and Regulation
ACTIVE NOT RECRUITINGGenetic Determinants of Myocarditis Induced by Immune-checkpoint Inhibitors
RECRUITINGCardiac Displacement From Third Trimester to Early Childhood
ACTIVE NOT RECRUITINGConstruction and Evaluation of Tumor Immunotherapy and Organ Damage Early Warning System Based on Multi-omics
RECRUITINGPhenotypic Manifestations of Hereditary ATTR Amyloidosis
RECRUITINGDalargin for Prevention of Organ Disfunction in High-Risk Abdominal Surgery
ACTIVE NOT RECRUITINGEOSS-ATTR Study (eHealth Based Operative Support System in ATTR-CM)
NOT YET RECRUITINGComprehensive Program for Hereditary Transthyretin Amyloidosis
RECRUITINGWiTNNess - TNNT1 Myopathy Natural History Study
RECRUITINGSilent Myocardial Ischemia in Patients Undergoing Non-oncological Abdominal Surgeries
RECRUITINGMyocardial Telomere Recapping Study for Dilated Cardiomyopathy
ACTIVE NOT RECRUITINGComparing the Effects of Combining Cognitive and Physical Exercise Training on Cognition, and Cerebral Blood Flow Regulation in Men and Women With Chronic Heart Failure
RECRUITINGExternal Resources
Links to major genomics databases and tools