TNNT1 (troponin T1, slow skeletal type)

Gene

• Entrez ID: 7138
• Gene name: Troponin T1, slow skeletal type
• Gene symbol: TNNT1
• Synonyms (NCBI Gene): ANM, NEM5, STNT, TNT, TNTS
• Chromosome: 19
• Chromosome location: 19q13.42
• Summary: This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80358249	C>A	Not-provided, pathogenic	Coding sequence variant, stop gained
rs727504177	G>C	Pathogenic	Stop gained, coding sequence variant
rs944152647	CTC>-	Uncertain-significance, pathogenic	Coding sequence variant, splice donor variant
rs1156410888	T>C	Likely-pathogenic	Splice acceptor variant
rs1555859304	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555859876	C>T	Uncertain-significance, likely-pathogenic	Intron variant
rs1599875856	->ACTAC	Likely-pathogenic	Coding sequence variant, stop gained

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IMP	10952871
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 25910212, 31515488, 32296183
GO:0005523	Function	Tropomyosin binding	IBA
GO:0005523	Function	Tropomyosin binding	IMP	15665378
GO:0005523	Function	Tropomyosin binding	IPI	35510366
GO:0005829	Component	Cytosol	TAS
GO:0005861	Component	Troponin complex	IBA
GO:0005861	Component	Troponin complex	IDA	18032382
GO:0005861	Component	Troponin complex	IEA
GO:0005861	Component	Troponin complex	IMP	15665378
GO:0006937	Process	Regulation of muscle contraction	IEA
GO:0014883	Process	Transition between fast and slow fiber	IEA
GO:0031014	Function	Troponin T binding	IBA
GO:0031014	Function	Troponin T binding	IEA
GO:0031444	Process	Slow-twitch skeletal muscle fiber contraction	IBA
GO:0031444	Process	Slow-twitch skeletal muscle fiber contraction	IEA
GO:0045214	Process	Sarcomere organization	IBA
GO:0045932	Process	Negative regulation of muscle contraction	IDA	18032382

Other IDs

• MIM: 191041
• HGNC: 11948
• e!Ensembl: ENSG00000105048

Protein

• UniProt ID: P13805
• Protein name: Troponin T, slow skeletal muscle (TnTs) (Slow skeletal muscle troponin T) (sTnT)
• Protein function: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00992	Troponin	69 → 205	Troponin	Family

• Sequence:

  MSDTEEQEYEEEQPEEEAAEEEEEAPEEPEPVAEPEEERPKPSRPVVPPLIPPKIPEGER
  VDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEK
  ERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGRE
  MKVRILSERKKPLDIDYMGEEQLRARSAWLPPSQPSCPAREKAQELSDWIHQLESEKFDL
  MAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK

• Sequence length: 278

Pathways

KEGG:

Motor proteins
Cytoskeleton in muscle cells

Reactome:

Striated Muscle Contraction

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Nemaline myopathy 5	Likely pathogenic; Pathogenic	rs766934517, rs149559898, rs2515421573, rs1224321111, rs2147253798, rs1250741190, rs2515403750, rs2515404859, rs2515441946, rs2085561415, rs2515470310, rs1166914763, rs1599896616, rs80358249, rs2515443940, rs2515474466, rs1555855228, rs1555859304, rs2085385176, rs1156410888, rs1599875856, rs2085439767, rs2085575423, rs2085299661	RCV001377635 RCV003230283 RCV004576994 RCV002037641 RCV002022273 RCV001972397 RCV002510716 RCV002816118 RCV002851100 RCV003014820 RCV003226144 RCV003230311 RCV003230312 RCV000020554 RCV003445290 RCV003632985 RCV000552639 RCV000641947 RCV001257203 RCV000689648 RCV000991409 RCV001260949 RCV001260948 RCV001220490	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline myopathy 5B, autosomal recessive, childhood-onset	Pathogenic; Likely pathogenic	rs759458391, rs199701688, rs2515403962, rs2515443940	RCV003230313 RCV003230314 RCV003230315 RCV003445290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nemaline myopathy 5C, autosomal dominant	Likely pathogenic; Pathogenic	rs2515403750, rs2515444704	RCV005409885 RCV003230316	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TNNT1-related disorder	Likely pathogenic; Pathogenic	rs199701688	RCV004757582	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMISH NEMALINE MYOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHIES, NEMALINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEMALINE MYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nemaline Myopathy, Recessive	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	31512553		★☆☆☆☆ Found in Text Mining only
Amish nemaline myopathy	Nemaline myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	29217433	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	31680123	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	24700386	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30031058		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31830337	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	26132201	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	39331921	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	28973951, 30395933	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	37400933	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28973951, 30395933, 31937807, 34482543, 37313752, 37400933	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	20057144, 29217433	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	10617660, 14722098, 20057144	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31512553		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31830337		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31830337, 36160034, 39199281	Associate	★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	26950807, 29618599		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25467832	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26950807, 29618599		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26950807, 29618599		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	23244308		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26132201	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	25025207		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	30233871		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	26132201		★☆☆☆☆ Found in Text Mining only
Flexion contracture-shoulder	Shoulder flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	30233871		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	25970782	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	27760082		★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24700386	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37313752	Associate	★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	26950807		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	26950807		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32902783	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	32902783	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29210794		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30031058		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	33800494	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	24700386	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	37021424	Associate	★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	29178646	Associate	★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	11738357, 12732643, 12805120, 15665378, 24445317, 25430424, 27429059, 29178646, 29931346, 31604653		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathies, Nemaline	Myopathy	LHGDN	15665378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathies, Nemaline	Myopathy	GENOMICS_ENGLAND_DG	25430424, 27429059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathies, Nemaline	Myopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	26296490, 27429059, 29931346, 31148174		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy	Myopathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myotonia Congenita	Myotonia congenita	Pubtator	31680123	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	1473264, 1706783		★☆☆☆☆ Found in Text Mining only
NEMALINE MYOPATHY 5	Nemaline myopathy	ORPHANET_DG	10952871		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEMALINE MYOPATHY 5	Nemaline myopathy	CLINVAR_DG	10952871, 12732643, 15665378, 24689076, 25430424, 27429059		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline myopathy 5	Nemaline myopathy	Pubtator	10952871, 30395933	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEMALINE MYOPATHY 5	Nemaline myopathy	BEFREE	12732643, 15665378, 24445317, 29931346, 31148174		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEMALINE MYOPATHY 5	Nemaline myopathy	GENOMICS_ENGLAND_DG	25430424, 27429059		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEMALINE MYOPATHY 5	Nemaline myopathy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12954121, 30819448, 9865731		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	31830337		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	31830337	Associate	★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	31604653		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	38095640	Associate	★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28573499		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	25025207		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	25025207	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	25025207	Associate	★☆☆☆☆ Found in Text Mining only
Senile cardiac amyloidosis	Senile Cardiac Amyloidosis	BEFREE	30233871		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26253814, 29713086		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	29217433	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	31705962		★☆☆☆☆ Found in Text Mining only