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TNNT1 (troponin T1, slow skeletal type)
Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7138
Gene nameGene Name - the full gene name approved by the HGNC.
Troponin T1, slow skeletal type
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TNNT1
SynonymsGene synonyms aliases
ANM, NEM5, STNT, TNT, TNTS
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.42
SummarySummary of gene provided in NCBI Entrez Gene.
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.
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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 information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0003009 Process Skeletal muscle contraction IMP 10952871
GO:0005515 Function Protein binding IPI 21516116, 25416956, 31515488
GO:0005523 Function Tropomyosin binding IBA 21873635
GO:0005523 Function Tropomyosin binding IMP 15665378
GO:0005829 Component Cytosol TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Motor proteins
Cytoskeleton in muscle cells 		  Striated Muscle Contraction
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Myopathy Myopathy, Myopathies, Nemaline rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338 27429059, 25430424
Nemaline myopathy NEMALINE MYOPATHY 5, Amish nemaline myopathy rs80358250, rs80358249, rs121964854, rs1057515573, rs1057515574, rs121913662, rs1057515575, rs1364598710, rs387907090, rs397509419, rs367579275, rs397509420, rs397509421, rs398124167, rs398124172, rs587780271, rs587780272, rs587780397, rs587780399, rs727502797, rs724159964, rs727502799, rs724159965, rs730882257, rs730882258, rs730882235, rs730882259, rs730882260, rs786204576, rs786204430, rs769345284, rs794727136, rs797045098, rs797045735, rs797044606, rs869312740, rs878854368, rs555445835, rs762278237, rs758105619, rs886041851, rs755239192, rs80344795, rs886043631, rs773952935, rs112610938, rs1057516676, rs1057516348, rs1057516996, rs1057516758, rs1057517317, rs780022652, rs1057516381, rs1057517399, rs1057516938, rs1057516739, rs1057517360, rs1057518200, rs1057517977, rs1057519128, rs1057519129, rs375145370, rs1057524581, rs758188096, rs1131691547, rs1553255357, rs754272530, rs1553255362, rs1553526884, rs1553564693, rs1553605995, rs1386238241, rs200731870, rs747179265, rs1330332139, rs1553740233, rs776569219, rs781185019, rs375628303, rs1553862061, rs1553934562, rs1553484601, rs775631800, rs781667543, rs1553556154, rs1553770146, rs1553875421, rs1553896522, rs1553469514, rs1553548666, rs1426709672, rs1274699363, rs1555855228, rs928945364, rs763364977, rs1458048713, rs191579691, rs1472403020, rs761232641, rs1336053002, rs202048855, rs1197561990, rs755531536, rs762133567, rs1553555882, rs1371849916, rs934111355, rs934955715, rs1553862274, rs113326313, rs1255744452, rs1553502168, rs139588377, rs752493018, rs1555859304, rs866309952, rs1191429915, rs112687345, rs1421095081, rs1553548207, rs752582527, rs1257495033, rs1553603690, rs1553623367, rs1553627466, rs1488066635, rs1553519860, rs113525641, rs1553526619, rs1553642332, rs1553646540, rs755863625, rs1553679273, rs1553688242, rs1337287633, rs1332061304, rs1553715579, rs374929094, rs539819851, rs1553518813, rs1553519124, rs1553520609, rs1553548771, rs1553891733, rs1366853918, rs1218073575, rs1553537512, rs1553548752, rs1553552384, rs1553530144, rs1553551650, rs747564597, rs1553915731, rs1390379576, rs776059611, rs756726488, rs1357811155, rs1553555768, rs1553536267, rs1553939284, rs1553939600, rs113290650, rs772009599, rs1255445731, rs1266535163, rs1553561525, rs1011425121, rs193042896, rs1423137705, rs1553561665, rs1553548018, rs1553561697, rs1553948395, rs1553551748, rs1553963973, rs1553552413, rs1553556275, rs1553561211, rs1553615846, rs781120931, rs760935667, rs755970391, rs765403861, rs1553603400, rs1302373559, rs1553603438, rs1389892619, rs1553710982, rs757157808, rs1180407562, rs1553644243, rs1553983416, rs1553990438, rs1446930968, rs1553755829, rs1553757097, rs1180339426, rs557870969, rs1553468960, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553517128, rs1553678967, rs1553695209, rs1553695557, rs1553538835, rs1553934597, rs1553539777, rs1553939660, rs1553557405, rs1553939774, rs1185654671, rs1242775893, rs143644938, rs1553717306, rs1553963960, rs1553686994, rs1373493309, rs1553448527, rs1553694860, rs1553603437, rs1553457607, rs1553603933, rs1553763404, rs1475648900, rs1553769576, rs1553487838, rs749452641, rs760082702, rs767693366, rs1553904694, rs111300270, rs1553930053, rs1553939648, rs754369875, rs1553770178, rs112517981, rs1553886582, rs774495973, rs1553512813, rs1342507012, rs1428597732, rs1553939806, rs746999970, rs1553901249, rs1553933986, rs1553947423, rs1553938571, rs1553964158, rs113091511, rs1553472127, rs1553962493, rs1553565278, rs756363951, rs1553579092, rs1553593177, rs1553603958, rs1553468939, rs1553607505, rs1553469502, rs770797137, rs1553495140, rs1553608621, rs1159756073, rs776167256, rs1553642811, rs1553501889, rs1553542669, rs1553558398, rs1220787593, rs374562457, rs1553689057, rs778593702, rs1553568167, rs1553580540, rs1553586486, rs1553601066, rs750585238, rs752893483, rs1553689774, rs1560283028, rs1559580467, rs1560031341, rs1559296376, rs201636991, rs1559039815, rs775513051, rs1559534672, rs748922882, rs112544116, rs780343350, rs772366030, rs1247404453, rs1186218257, rs2085385176, rs1156410888, rs1259297878, rs762780413, rs1559360386, rs1037388276, rs1559940778, rs760200697, rs1344099907, rs750900690, rs777819332, rs1559573882, rs1559168230, rs761067911, rs1574981296, rs1323364980, rs537560378, rs752267876, rs1576695735, rs370098540, rs1577244250, rs1577886635, rs1577890764, rs555516831, rs1578011278, rs1553862114, rs1319778592, rs1560499498, rs1574014358, rs1574526903, rs776982138, rs1574820458, rs1575122070, rs1575295628, rs1575358650, rs1576517390, rs1576600442, rs1576704575, rs1577548638, rs1340063197, rs1574349645, rs1288106608, rs752734208, rs1575218831, rs1574772311, rs1576819152, rs1458096844, rs1577833924, rs1577636079, rs1578868550, rs1574741105, rs1575219191, rs1405498595, rs1575024425, rs1577253760, rs756352186, rs1368453406, rs199655993, rs1594784544, rs1559207733, rs1575305566, rs1575714905, rs1576203853, rs1392500142, rs779909544, rs1575218072, rs1599875856, rs1575668113, rs753417634, rs552379239, rs778303947, rs1212374733, rs1490309743, rs767709270, rs769824247, rs1374971806, rs781754253, rs1553545126, rs2079459982, rs2084059565, rs2084217268, rs2093334853, rs2096491549, rs2096504394, rs2097449114, rs2097452910, rs1578869371, rs1326513178, rs2097713802, rs2097759896, rs2097886912, rs2098013713, rs763541152, rs2098910159, rs2098919758, rs2099021112, rs2099075936, rs2099082250, rs2099118606, rs2099191297, rs757999917, rs2099785680, rs778022582, rs1177405905, rs2097571378, rs2099350888, rs2097758221, rs1553711195, rs747946275, rs2099076059, rs2085439767, rs2085575423, rs925947627 25430424, 24689076, 10952871, 15665378, 12732643, 27429059
Hypotonia Neonatal Hypotonia rs141138948, rs397517172, rs869312824, rs1583169151
Unknown
Disease name Disease term dbSNP ID References
Amyotrophy Proximal amyotrophy
Congenital pectus carinatum Congenital pectus carinatum
Hip contracture Hip Contracture
Motor delay Clumsiness - motor delay

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