P45378
PR
Gene name |
TNNT3 |
Protein name |
Troponin T, fast skeletal muscle |
Names |
TnTf, Beta-TnTF, Fast skeletal muscle troponin T, fTnT |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7140 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P45378
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P45378-F1 | Predicted | AlphaFoldDB |
214 variants for P45378
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000261308 RCV002522193 RCV000318809 rs757234740 |
45 | A>V | Arthrogryposis multiplex congenita distal [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000194279 rs199474721 CA208350 RCV000024570 VAR_082280 RCV000787280 |
74 | R>C | Variant assessed as Somatic; impact. Arthrogryposis, distal, type 2B2 Arthyrgryposis, distal, type 2B DA2B2 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000024561 RCV000194919 COSM1475329 RCV000009468 VAR_026453 COSM3375758 CA119994 rs121434638 COSM428812 |
74 | R>H | pancreas Variant assessed as Somatic; impact. Arthrogryposis, distal, type 2B2 breast Arthyrgryposis, distal, type 2B DA2B2 [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA216209550 rs755143093 RCV001108018 |
97 | E>G | Distal arthrogryposis type 2B1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001329618 rs1854343743 |
166 | S>N | Arthrogryposis, distal, type 2B2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001102796 rs1161353535 CA379098505 |
175 | K>R | Distal arthrogryposis type 2B1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs775584381 RCV001104719 |
177 | G>S | Distal arthrogryposis type 2B1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200937415 RCV002520711 RCV000355644 CA5816520 RCV002520712 RCV000406375 |
183 | R>Q | Arthrogryposis multiplex congenita distal Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000493676 RCV001262955 rs765275660 |
188 | K>missing | Arthrogryposis, distal, type 2B2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs367658497 CA5816568 COSM88693 RCV000735373 RCV002518523 RCV000238964 |
234 | R>C | ovary Isolated Pierre-Robin syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000276212 rs766691409 RCV000314991 CA10638699 |
234 | R>P | Distal arthrogryposis type 2B1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1855793483 RCV001329620 |
264 | V>L | Distal arthrogryposis type 2B1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1196497531 CA379093510 |
2 | S>P | No |
ClinGen gnomAD |
|
|
CA5816026 rs199899402 |
3 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750777064 CA379093533 |
3 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5816025 rs199899402 |
3 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5816028 rs756320452 |
4 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780143869 CA5816029 |
4 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5816031 rs369991179 |
5 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1159731594 CA379093562 |
5 | E>A | No |
ClinGen gnomAD |
|
|
CA5816030 rs369991179 |
5 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5816032 rs779173139 |
6 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1476389185 CA379093663 |
7 | E>G | No |
ClinGen Ensembl |
|
|
CA379093700 rs1252730314 |
9 | V>A | No |
ClinGen gnomAD |
|
|
rs376786651 COSM1235754 CA379093842 COSM1235755 |
13 | Y>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed |
|
COSM1703333 COSM1703334 CA5816081 rs768888979 |
14 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA216198537 rs768888979 |
14 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5816082 rs757270420 |
15 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA216198550 rs369789445 |
16 | E>Q | No |
ClinGen ESP TOPMed |
|
|
rs376206237 CA5816121 |
21 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1194329202 CA379094892 |
25 | E>Q | No |
ClinGen TOPMed |
|
|
CA379094916 rs1480393765 |
27 | H>R | No |
ClinGen TOPMed |
|
|
rs1420516180 CA379094912 |
27 | H>Y | No |
ClinGen gnomAD |
|
|
CA379094925 rs1411666338 |
28 | E>K | No |
ClinGen gnomAD |
|
|
rs1174042898 CA379094953 |
30 | V>F | No |
ClinGen gnomAD |
|
|
rs1235326401 CA379095502 |
30 | V>G | No |
ClinGen gnomAD |
|
|
rs1174042898 CA379094955 |
30 | V>L | No |
ClinGen gnomAD |
|
|
rs199976314 CA5816195 |
32 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1189503804 CA379095525 |
32 | E>Q | No |
ClinGen Ensembl |
|
| rs1233477669 | 40 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs966279745 | 41 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379095763 rs1271053558 COSM224977 |
48 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs200287895 CA5816333 |
49 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770168335 CA5816334 |
50 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379095781 rs770168335 |
50 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183587885 CA379095780 |
50 | P>S | No |
ClinGen gnomAD |
|
|
rs1416726283 CA379095797 |
53 | K>E | No |
ClinGen gnomAD |
|
|
CA379096319 rs1322228885 |
53 | K>N | No |
ClinGen gnomAD |
|
|
CA379096322 rs1368927846 |
54 | L>F | No |
ClinGen gnomAD |
|
|
rs1266993984 CA379096337 |
56 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 57 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5816359 rs772115660 |
57 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773302816 CA5816360 |
59 | I>V | No |
ClinGen ExAC |
|
|
rs1442586573 CA379096358 |
60 | P>T | No |
ClinGen gnomAD |
|
|
CA5816361 rs760617350 |
61 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776425941 CA379096383 |
63 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5816364 rs759236568 |
65 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379096423 rs1223550611 |
68 | D>E | No |
ClinGen TOPMed |
|
|
CA379096416 rs1209019694 |
68 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5816391 rs779208956 |
70 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA5816393 rs758553719 |
72 | K>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 72 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379096503 rs1589983560 |
78 | D>A | No |
ClinGen Ensembl |
|
|
CA5816394 rs372303464 |
80 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA216209520 rs564740647 |
80 | M>T | No |
ClinGen gnomAD |
|
|
rs375914283 CA5816396 |
86 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379096563 rs1589983763 |
87 | D>A | No |
ClinGen Ensembl |
|
|
CA216209532 rs200704716 |
87 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA216209535 rs952100472 |
90 | F>Y | No |
ClinGen TOPMed |
|
|
COSM1139731 CA379096603 rs1483036041 |
92 | A>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1415991336 CA379096605 |
93 | R>Q | No |
ClinGen gnomAD |
|
|
CA5816399 rs193178655 |
93 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379096609 rs1312015446 |
94 | K>E | No |
ClinGen TOPMed |
|
|
rs1589984140 CA379096620 |
95 | K>R | No |
ClinGen Ensembl |
|
|
CA216209542 COSM1240476 rs867571200 COSM1240475 |
96 | E>K | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1409566158 CA379096636 |
97 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 98 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764019640 | 99 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564825546 CA379096648 |
99 | E>K | No |
ClinGen Ensembl |
|
|
CA5816405 rs761573994 |
100 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379096669 rs1311415725 |
101 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA379096684 rs772808983 |
102 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5816407 rs772808983 |
102 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200050378 CA5816409 |
107 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1200673949 COSM1585656 CA379096807 COSM925830 |
108 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA379096827 rs1219579090 |
110 | R>G | No |
ClinGen gnomAD |
|
|
CA5816429 rs76655120 |
110 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5816431 rs141020473 |
111 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208387518 CA379096842 |
111 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5816432 rs377446757 |
112 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5816433 rs377446757 |
112 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA216209668 rs375897725 |
113 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 114 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379096878 rs1266544021 |
114 | R>T | No |
ClinGen TOPMed |
|
|
CA216209672 rs898031091 |
115 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA379096913 rs1345904141 |
117 | Q>E | No |
ClinGen TOPMed |
|
|
CA5816435 rs750736486 |
119 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000504256 RCV000024569 CA215426 rs144957238 |
121 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs749185938 CA5816437 |
121 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455290682 CA379096991 |
122 | A>V | No |
ClinGen gnomAD |
|
|
CA379097011 rs1390212637 |
123 | E>D | No |
ClinGen TOPMed |
|
|
CA379097008 rs1388665636 |
123 | E>V | No |
ClinGen gnomAD |
|
|
CA5816439 rs778501972 |
124 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA379097018 rs1317892202 |
124 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 125 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5816441 rs771819702 |
125 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs747984101 CA5816440 |
125 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 125 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5816442 rs184995430 |
126 | R>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA5816443 rs147447477 |
128 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000761753 CA216209720 rs1049172873 |
128 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA379097066 rs147447477 |
128 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485624802 CA379097113 |
132 | L>M | No |
ClinGen gnomAD |
|
|
rs1189130830 CA379097115 |
132 | L>Q | No |
ClinGen TOPMed |
|
|
rs774521719 CA5816448 |
133 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769210980 CA5816447 |
133 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774521719 CA5816449 |
133 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761936688 CA216210001 |
135 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370546762 CA5816474 |
142 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771880745 CA216210011 |
143 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA379097982 rs771880745 |
143 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA216210014 rs373949756 |
144 | A>D | No |
ClinGen ESP TOPMed |
|
|
rs1342043402 CA379098035 |
145 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA379098050 rs1467626810 |
147 | R>G | No |
ClinGen TOPMed |
|
|
rs1229836339 CA379098075 |
148 | A>S | No |
ClinGen gnomAD |
|
|
rs1277159140 CA379098089 |
148 | A>V | No |
ClinGen gnomAD |
|
|
CA5816477 rs151065422 |
151 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs972779077 CA216210021 |
151 | D>G | No |
ClinGen TOPMed |
|
|
CA5816476 rs758352644 |
151 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169178164 CA379098289 |
160 | S>P | No |
ClinGen gnomAD |
|
|
rs1374534603 CA379098326 |
163 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5816482 rs780810053 |
163 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA379098349 rs1389472349 |
165 | Y>C | No |
ClinGen TOPMed |
|
|
CA216210049 rs4701 |
165 | Y>D | No |
ClinGen Ensembl |
|
|
rs1022154479 CA216210051 |
167 | S>G | No |
ClinGen TOPMed |
|
|
rs533308270 CA5816483 |
168 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5816485 rs779482083 |
170 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs748642216 CA5816486 |
170 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5816517 rs775584381 |
177 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA379098542 rs1457812332 |
178 | K>T | No |
ClinGen gnomAD |
|
|
CA379098548 rs1294657235 |
179 | K>E | No |
ClinGen gnomAD |
|
|
rs763008145 CA5816518 |
180 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379098590 rs1349483522 |
183 | R>W | No |
ClinGen gnomAD |
|
|
rs1053702962 CA216210216 |
184 | E>A | No |
ClinGen Ensembl |
|
|
CA379098619 rs1564828837 |
185 | M>T | No |
ClinGen Ensembl |
|
|
rs1483995222 CA379098645 |
187 | K>E | No |
ClinGen TOPMed |
|
|
CA379098662 rs889645401 |
188 | K>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA216210230 rs889645401 |
188 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1589992266 CA379098671 |
189 | I>M | No |
ClinGen Ensembl |
|
|
CA5816522 rs550500142 |
189 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379098667 rs1589992220 |
189 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 190 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564829008 CA379098679 |
191 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 191 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490838516 CA379098680 |
191 | A>V | No |
ClinGen gnomAD |
|
|
rs767297006 CA5816523 |
192 | E>D | No |
ClinGen ExAC |
|
|
rs1377074120 CA379098692 |
193 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs750218802 CA5816524 |
194 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755730812 CA5816525 |
194 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755730812 CA5816526 |
194 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179208074 CA379098713 |
196 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753608301 CA5816527 |
199 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs778613532 CA5816529 |
200 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778613532 CA379098734 |
200 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747468615 CA379098745 |
201 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5816530 rs747468615 |
201 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379098746 rs1589992666 |
201 | H>Q | No |
ClinGen Ensembl |
|
|
rs757734441 CA5816531 |
202 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746233471 CA5816533 |
204 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1019385765 CA216210281 |
206 | K>T | No |
ClinGen Ensembl |
|
|
rs1442420279 CA379098788 |
208 | R>K | No |
ClinGen gnomAD |
|
|
rs778900138 CA5816556 |
208 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772257699 CA5816558 |
211 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs772987319 CA5816559 |
212 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs760712097 CA5816560 |
212 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776598953 CA5816562 |
216 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1424952733 CA379098866 |
217 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379098868 rs985064835 |
218 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1589994772 CA379098874 |
219 | H>Y | No |
ClinGen Ensembl |
|
|
CA5816563 rs759196589 |
221 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA216210498 rs909412885 |
222 | E>D | No |
ClinGen TOPMed |
|
|
rs1025389852 CA216210494 |
222 | E>K | No |
ClinGen TOPMed |
|
|
CA5816564 RCV000994541 rs373807514 |
223 | I>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA379098911 CA379098910 rs1345701605 |
224 | D>E | No |
ClinGen gnomAD |
|
|
rs762365604 CA5816565 |
225 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1366672480 CA379098927 |
227 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1224292636 CA379098939 |
228 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379098979 rs1208169735 |
233 | K>T | No |
ClinGen gnomAD |
|
|
CA379098991 rs766691409 |
234 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5816569 rs766691409 |
234 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216210540 rs1025599726 |
235 | Q>E | No |
ClinGen Ensembl |
|
|
rs970919912 CA216210543 |
236 | K>I | No |
ClinGen Ensembl |
|
|
RCV000414659 rs1057518251 |
243 | R>K | No |
ClinVar dbSNP |
|
|
RCV000922500 rs1130395 |
244 | S>N | No |
ClinVar dbSNP |
|
| TCGA novel | 252 | H>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780590296 CA5816661 |
254 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379100546 rs1250963353 |
255 | K>Q | No |
ClinGen gnomAD |
|
|
CA5816662 rs749764688 |
256 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179003571 CA379100566 |
258 | T>A | No |
ClinGen gnomAD |
|
|
rs1179003571 CA379100567 |
258 | T>P | No |
ClinGen gnomAD |
|
|
CA379100577 rs1254217928 |
260 | A>T | No |
ClinGen gnomAD |
|
|
rs372186101 CA5816666 |
265 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372186101 COSM925835 CA5816665 COSM1585652 |
265 | G>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs970702029 CA216213510 |
266 | G>A | No |
ClinGen TOPMed |
|
|
rs970702029 CA379100617 |
266 | G>E | No |
ClinGen TOPMed |
|
|
CA5816667 rs549267070 |
266 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766438980 CA5816668 |
267 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs202179523 CA379100621 |
267 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5816669 rs202179523 |
267 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759458887 CA5816670 |
268 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1590033519 CA918804531 |
270 | K>del | No |
ClinGen Ensembl |
1 associated diseases with P45378
[MIM: 618435]: Arthrogryposis, distal, 2B2 (DA2B2)
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B2 inheritance is autosomal dominant. {ECO:0000269|PubMed:12865991, ECO:0000269|PubMed:19142688, ECO:0000269|PubMed:21402185, ECO:0000269|PubMed:25337069}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B2 inheritance is autosomal dominant. {ECO:0000269|PubMed:12865991, ECO:0000269|PubMed:19142688, ECO:0000269|PubMed:21402185, ECO:0000269|PubMed:25337069}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P45378
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P45378 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| troponin complex | A complex of accessory proteins (typically troponin T, troponin I and troponin C) found associated with actin in muscle thin filaments; involved in calcium regulation of muscle contraction. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium-dependent protein binding | Binding to a protein or protein complex in the presence of calcium. |
| tropomyosin binding | Binding to tropomyosin, a protein associated with actin filaments both in cytoplasm and, in association with troponin, in the thin filament of striated muscle. |
| troponin C binding | Binding to troponin C, the calcium-binding subunit of the troponin complex. |
| troponin I binding | Binding to troponin I, the inhibitory subunit of the troponin complex. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| positive regulation of calcium-dependent ATPase activity | Any process that activates or increases the frequency, rate or extent of calcium-dependent ATPase activity. |
| regulation of ATP-dependent activity | Any process that modulates the rate of an ATP-dependent activity. |
| regulation of striated muscle contraction | Any process that modulates the frequency, rate or extent of striated muscle contraction. |
| sarcomere organization | The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
| skeletal muscle contraction | A process in which force is generated within skeletal muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the skeletal muscle, the muscle contraction takes advantage of an ordered sarcomeric structure and in most cases it is under voluntary control. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P13789 | TNNT2 | Troponin T, cardiac muscle | Bos taurus (Bovine) | PR |
| P02642 | TNNT2 | Troponin T, cardiac muscle isoforms | Gallus gallus (Chicken) | PR |
| P50752 | Tnnt2 | Troponin T, cardiac muscle | Mus musculus (Mouse) | PR |
| Q9QZ47 | Tnnt3 | Troponin T, fast skeletal muscle | Mus musculus (Mouse) | PR |
| P50753 | Tnnt2 | Troponin T, cardiac muscle | Rattus norvegicus (Rat) | PR |
| P09739 | Tnnt3 | Troponin T, fast skeletal muscle | Rattus norvegicus (Rat) | PR |
| Q27371 | mup-2 | Troponin T | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSDEEVEQVE | EQYEEEEEAQ | EEAAEVHEEV | HEPEEVQEDT | AEEDAEEEKP | RPKLTAPKIP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EGEKVDFDDI | QKKRQNKDLM | ELQALIDSHF | EARKKEEEEL | VALKERIEKR | RAERAEQQRI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RAEKERERQN | RLAEEKARRE | EEDAKRRAED | DLKKKKALSS | MGANYSSYLA | KADQKRGKKQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TAREMKKKIL | AERRKPLNID | HLGEDKLRDK | AKELWETLHQ | LEIDKFEFGE | KLKRQKYDIT |
| 250 | 260 | ||||
| TLRSRIDQAQ | KHSKKAGTPA | KGKVGGRWK |