TNNT1 (troponin T1, slow skeletal type)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7138
Gene name Troponin T1, slow skeletal type
Gene symbol TNNT1
Synonyms (NCBI Gene)
ANMNEM5STNTTNTTNTS
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 information provided by dbSNP.
7
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
191041 11948 ENSG00000105048
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Motor proteins
Cytoskeleton in muscle cells 		  Striated Muscle Contraction
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
308
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nemaline myopathy 5 Likely pathogenic; Pathogenic rs766934517, rs149559898, rs2515421573, rs1224321111, rs2147253798, rs1250741190, rs2515403750, rs2515404859, rs2515441946, rs2085561415, rs2515470310, rs1166914763, rs1599896616, rs80358249, rs2515443940
View all (9 more)		 RCV001377635
RCV003230283
RCV004576994
RCV002037641
RCV002022273
RCV001972397
RCV002510716
RCV002816118
RCV002851100
RCV003014820
RCV003226144
RCV003230311
RCV003230312
RCV000020554
RCV003445290
RCV003632985
RCV000552639
RCV000641947
RCV001257203
RCV000689648
RCV000991409
RCV001260949
RCV001260948
RCV001220490
Nemaline myopathy 5B, autosomal recessive, childhood-onset Pathogenic; Likely pathogenic rs759458391, rs199701688, rs2515403962, rs2515443940 RCV003230313
RCV003230314
RCV003230315
RCV003445290
Nemaline myopathy 5C, autosomal dominant Likely pathogenic; Pathogenic rs2515403750, rs2515444704 RCV005409885
RCV003230316
TNNT1-related disorder Likely pathogenic; Pathogenic rs199701688 RCV004757582
Show/Hide Unknown Diseases (12)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs7359930 RCV005925251
Cervical cancer Benign rs7359930 RCV005925253
Cholangiocarcinoma Benign rs111759996 RCV005902284
Malignant lymphoma, large B-cell, diffuse Benign; Likely benign rs7359930, rs67795913 RCV005925254
RCV005889346
Show/Hide Text Mining Associations (40)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmias Cardiac Associate 29217433
Arthrogryposis Associate 31680123
Atrial Fibrillation Associate 24700386
Breast Neoplasms Associate 31830337
Carcinoma Endometrioid Associate 26132201
Carcinoma Renal Cell Associate 39331921
Cardiomyopathies Associate 28973951, 30395933
Cardiomyopathies Stimulate 37400933
Cardiomyopathy Dilated Associate 28973951, 30395933, 31937807, 34482543, 37313752, 37400933
Cardiomyopathy Hypertrophic Associate 20057144, 29217433