Q92665
Gene name |
MRPS31 (IMOGN38) |
Protein name |
28S ribosomal protein S31, mitochondrial |
Names |
MRP-S31, S31mt, Imogen 38, Mitochondrial small ribosomal subunit protein mS31 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10240 |
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
43 structures for Q92665
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3J9M | EM | 350 A | AY | 1-395 | PDB |
| 6NU2 | EM | 390 A | AY | 276-383 | PDB |
| 6NU3 | EM | 440 A | AY | 1-395 | PDB |
| 6RW4 | EM | 297 A | Y | 1-395 | PDB |
| 6RW5 | EM | 314 A | Y | 1-395 | PDB |
| 6VLZ | EM | 297 A | AY | 1-395 | PDB |
| 6VMI | EM | 296 A | AY | 1-395 | PDB |
| 6ZM5 | EM | 289 A | AY | 1-395 | PDB |
| 6ZM6 | EM | 259 A | AY | 1-395 | PDB |
| 6ZS9 | EM | 400 A | AY | 1-395 | PDB |
| 6ZSA | EM | 400 A | AY | 1-395 | PDB |
| 6ZSB | EM | 450 A | AY | 1-395 | PDB |
| 6ZSC | EM | 350 A | AY | 1-395 | PDB |
| 6ZSD | EM | 370 A | AY | 1-395 | PDB |
| 6ZSE | EM | 500 A | AY | 1-395 | PDB |
| 6ZSG | EM | 400 A | AY | 1-395 | PDB |
| 7A5F | EM | 440 A | Y6 | 1-395 | PDB |
| 7A5G | EM | 433 A | Y6 | 1-395 | PDB |
| 7A5I | EM | 370 A | Y6 | 1-395 | PDB |
| 7A5K | EM | 370 A | Y6 | 1-395 | PDB |
| 7L08 | EM | 349 A | AY | 1-395 | PDB |
| 7OG4 | EM | 380 A | AY | 1-395 | PDB |
| 7P2E | EM | 240 A | Y | 1-395 | PDB |
| 7PNX | EM | 276 A | Y | 1-395 | PDB |
| 7PNY | EM | 306 A | Y | 1-395 | PDB |
| 7PNZ | EM | 309 A | Y | 1-395 | PDB |
| 7PO0 | EM | 290 A | Y | 1-395 | PDB |
| 7PO1 | EM | 292 A | Y | 1-395 | PDB |
| 7PO2 | EM | 309 A | Y | 1-395 | PDB |
| 7PO3 | EM | 292 A | Y | 1-395 | PDB |
| 7QI4 | EM | 221 A | AY | 1-395 | PDB |
| 7QI5 | EM | 263 A | AY | 1-395 | PDB |
| 7QI6 | EM | 298 A | AY | 1-395 | PDB |
| 8ANY | EM | 285 A | AY | 1-395 | PDB |
| 8CSP | EM | 266 A | Y | 1-395 | PDB |
| 8CSQ | EM | 254 A | Y | 1-395 | PDB |
| 8CSR | EM | 254 A | Y | 1-395 | PDB |
| 8CSS | EM | 236 A | Y | 1-395 | PDB |
| 8CST | EM | 285 A | Y | 1-395 | PDB |
| 8CSU | EM | 303 A | Y | 1-395 | PDB |
| 8OIR | EM | 310 A | AY | 1-395 | PDB |
| 8OIS | EM | 300 A | AY | 1-395 | PDB |
| AF-Q92665-F1 | Predicted | AlphaFoldDB |
338 variants for Q92665
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1158530189 CA387915309 |
2 | F>C | No |
ClinGen Ensembl |
|
|
rs759755257 CA6959552 |
2 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387915299 rs1292149376 |
3 | P>S | No |
ClinGen TOPMed |
|
|
rs1458886459 CA387915291 |
4 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs777069421 CA6959551 |
4 | R>T | No |
ClinGen ExAC TOPMed |
|
|
rs771232105 CA6959550 |
5 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6959549 rs747268164 |
7 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA387915249 rs1449063869 |
7 | T>K | No |
ClinGen gnomAD |
|
|
CA6959543 rs745589744 |
10 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs745589744 CA6959544 |
10 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6959545 rs185925279 |
10 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1566113976 CA387915208 |
11 | L>V | No |
ClinGen Ensembl |
|
|
rs780985983 CA6959542 |
12 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6959541 rs756862669 |
12 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6959540 rs751181261 |
13 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA387915185 rs1249383608 |
13 | P>S | No |
ClinGen gnomAD |
|
|
CA248355340 rs201928058 |
14 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs1276251312 CA387915171 |
14 | L>H | No |
ClinGen gnomAD |
|
|
rs1276251312 CA387915169 |
14 | L>P | No |
ClinGen gnomAD |
|
|
CA6959538 rs757842607 |
16 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs757842607 CA387915150 |
16 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA387915147 rs1237002206 |
16 | R>H | No |
ClinGen TOPMed |
|
|
rs1370419199 CA387915134 |
17 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6959537 rs752258768 |
18 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs765606634 CA387915110 |
19 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6959535 rs754218007 |
20 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6959534 rs754218007 |
20 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA248355320 rs1017191960 |
24 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 25 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761174341 CA6959532 |
25 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA387915025 rs1439577746 |
26 | T>A | No |
ClinGen gnomAD |
|
|
CA6959531 rs773551308 |
28 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772400596 CA6959530 |
30 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA387914966 rs1593281557 |
31 | I>V | No |
ClinGen Ensembl |
|
|
CA387914957 rs1249614377 |
32 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387914944 rs1181371399 |
33 | L>P | No |
ClinGen gnomAD |
|
|
rs774498966 CA387914922 |
37 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774498966 CA6959528 |
37 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387914924 rs1462409510 |
37 | R>W | No |
ClinGen gnomAD |
|
|
rs1343907371 CA387914916 |
38 | H>R | No |
ClinGen gnomAD |
|
|
rs1360825653 CA387914910 |
39 | G>E | No |
ClinGen TOPMed |
|
|
rs1256053876 CA387914913 |
39 | G>R | No |
ClinGen gnomAD |
|
|
CA6959525 rs149961906 |
40 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1397377542 CA387914907 |
40 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6959523 rs770690567 |
43 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387914887 rs1593281518 |
43 | Y>D | No |
ClinGen Ensembl |
|
|
rs1310271801 CA387914880 |
44 | R>C | No |
ClinGen gnomAD |
|
|
rs1310271801 CA387914882 |
44 | R>G | No |
ClinGen gnomAD |
|
|
CA6959521 rs777341731 |
44 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs758084407 CA6959520 |
45 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs752101185 CA6959519 |
45 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1031367593 CA248355257 |
46 | S>L | No |
ClinGen TOPMed |
|
|
CA6959517 rs754489555 |
47 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 48 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372300050 CA6959515 |
50 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6959512 rs371649042 |
51 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6959511 rs762115044 |
51 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371649042 CA6959513 |
51 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs556043646 CA248351989 |
54 | N>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs764279977 CA6959489 |
55 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs764279977 CA387914446 |
55 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762953392 CA6959488 |
57 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6959487 rs775561550 |
58 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs539542256 CA248351981 |
58 | R>I | No |
ClinGen 1000Genomes |
|
|
rs773065063 CA6959485 |
59 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6959486 rs766257255 |
59 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139126960 CA6959483 |
62 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1263630118 CA387914400 |
62 | T>P | No |
ClinGen TOPMed |
|
|
rs1201470082 CA387914388 |
64 | S>G | No |
ClinGen TOPMed |
|
|
rs1279309120 CA387914385 |
64 | S>N | No |
ClinGen gnomAD |
|
|
rs1321438581 CA387914382 |
64 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1187879611 CA387914371 |
66 | I>N | No |
ClinGen TOPMed |
|
|
rs774052260 CA6959479 |
67 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768423504 CA6959478 |
67 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA387914361 rs1373682249 |
68 | S>G | No |
ClinGen gnomAD |
|
|
rs1220960619 CA387914358 |
68 | S>N | No |
ClinGen Ensembl |
|
|
CA6959477 rs748745900 |
69 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs892007225 CA248351872 |
71 | D>G | No |
ClinGen gnomAD |
|
|
rs779730647 CA6959476 |
72 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244500429 CA387914324 |
73 | Q>* | No |
ClinGen gnomAD |
|
|
CA6959475 rs756646860 |
73 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746344175 CA6959474 |
76 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387914303 rs868622225 |
76 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs868622225 CA248351860 |
76 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA248351859 rs17856655 |
80 | T>I | No |
ClinGen Ensembl |
|
|
rs960600173 CA248351843 |
82 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA387914266 rs960600173 |
82 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387914255 rs1407478038 |
83 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA387914252 rs1174520102 |
84 | T>A | No |
ClinGen gnomAD |
|
|
rs757626748 CA6959472 |
84 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA387914245 rs1229425973 |
85 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA387914244 rs1229425973 |
85 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200566842 CA248351816 |
86 | E>G | No |
ClinGen 1000Genomes |
|
|
CA6959468 rs201183404 |
88 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200426663 CA248351792 |
89 | D>G | No |
ClinGen 1000Genomes |
|
|
CA6959467 rs150773124 |
90 | S>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6959466 rs765272512 |
90 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs150773124 CA248351780 |
90 | S>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs759664412 CA6959465 |
91 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA387914194 rs1369735166 |
93 | E>K | No |
ClinGen gnomAD |
|
|
rs368046468 CA6959463 |
95 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774026133 CA6959461 |
96 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247874714 CA387914132 |
101 | G>D | No |
ClinGen gnomAD |
|
|
rs201935274 CA248351661 |
104 | K>R | No |
ClinGen 1000Genomes |
|
|
rs768370555 CA6959460 |
106 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482243689 CA387914087 |
108 | V>I | No |
ClinGen gnomAD |
|
|
rs199933450 CA6959459 |
110 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387914064 rs1270405301 |
111 | S>N | No |
ClinGen TOPMed |
|
|
CA387914058 rs1206084137 |
112 | T>A | No |
ClinGen gnomAD |
|
|
CA387914021 rs1192930304 |
114 | N>S | No |
ClinGen gnomAD |
|
|
rs1479201207 CA387914008 |
115 | V>L | No |
ClinGen TOPMed |
|
|
CA6959458 rs775319985 |
116 | R>* | Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769404257 CA6959457 |
116 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548881414 CA6959455 |
117 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6959456 rs142114244 |
117 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 118 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213088369 CA387913947 |
120 | P>S | No |
ClinGen gnomAD |
|
|
rs1566112637 CA387913924 |
122 | K>E | No |
ClinGen Ensembl |
|
|
rs747350850 CA6959453 |
123 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs778143647 CA6959452 |
125 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA387913868 rs1315848332 |
125 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6959451 rs139886992 |
126 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs17851966 CA248351602 |
132 | T>A | No |
ClinGen Ensembl |
|
|
CA248351587 rs773340932 |
134 | G>D | No |
ClinGen Ensembl |
|
|
rs755050072 CA6959448 |
135 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767427852 CA6959446 |
136 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs753873034 CA6959447 |
136 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA248351559 rs1047557890 |
137 | R>* | No |
ClinGen TOPMed |
|
|
CA6959445 rs199554814 |
137 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751326799 CA6959444 |
140 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6959443 rs763947727 |
140 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371403521 CA6959442 |
141 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387913621 rs1306269815 |
142 | Y>C | No |
ClinGen Ensembl |
|
|
CA6959441 rs775266887 |
143 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA387913593 rs1293548902 |
144 | P>S | No |
ClinGen TOPMed |
|
|
CA248351522 rs1050595636 |
145 | K>R | No |
ClinGen TOPMed |
|
|
CA6959420 rs751427650 |
148 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs764184452 CA6959419 |
149 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455836954 CA387912479 |
152 | S>T | No |
ClinGen gnomAD |
|
|
rs570464939 CA6959416 |
154 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376836833 CA248346980 |
160 | S>T | No |
ClinGen Ensembl |
|
|
rs1448882563 CA387912367 |
161 | A>T | No |
ClinGen gnomAD |
|
|
CA6959414 rs759142056 |
162 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6959413 rs770323321 |
165 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6959412 rs770323321 |
165 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6959411 rs553533266 |
167 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1264611418 CA387912218 |
171 | Q>R | No |
ClinGen gnomAD |
|
|
rs773701873 CA387912203 |
172 | T>I | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1593276748 CA387912210 |
172 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs773701873 CA6959410 |
172 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA387912144 rs1361145095 |
177 | L>P | No |
ClinGen gnomAD |
|
|
rs563448048 CA6959409 |
182 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1365239821 CA387912071 |
183 | Q>K | No |
ClinGen gnomAD |
|
|
CA248346917 rs137895732 |
184 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA387912020 rs1304770587 |
185 | E>K | No |
ClinGen TOPMed |
|
|
rs1293306798 CA387911941 |
187 | E>A | No |
ClinGen gnomAD |
|
|
CA6959407 rs774724951 |
188 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166898229 CA387911888 |
190 | A>T | No |
ClinGen gnomAD |
|
|
rs768886101 CA6959406 |
192 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1257610719 CA387911774 |
194 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1257610719 CA387911771 COSM3955587 |
194 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs190789123 CA6959405 |
196 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6959404 rs780374344 |
196 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6959403 rs187459666 |
197 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1266666327 CA387911725 |
197 | P>T | No |
ClinGen gnomAD |
|
|
rs746012267 CA6959402 |
198 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774882489 CA6959390 |
201 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1335537372 CA387911293 |
203 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs768882571 CA248345908 |
205 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482618905 CA387911247 |
205 | I>M | No |
ClinGen gnomAD |
|
|
CA6959389 rs768882571 |
205 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6959388 rs749721896 |
207 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs749721896 CA387911216 |
207 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA387911202 rs1224625099 |
207 | D>V | No |
ClinGen gnomAD |
|
|
CA6959387 rs373481473 |
208 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA248345881 rs536332780 |
210 | V>A | No |
ClinGen Ensembl |
|
|
CA248345887 rs1011600902 |
210 | V>L | No |
ClinGen TOPMed |
|
|
CA387911089 rs1286832143 |
212 | R>G | No |
ClinGen gnomAD |
|
|
rs1228233832 CA387911051 |
213 | S>C | No |
ClinGen gnomAD |
|
|
rs1309347819 CA387911019 |
215 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs779757365 CA6959385 |
215 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA387910994 rs781452553 |
216 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs781452553 CA6959384 |
216 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1319818083 CA387910956 |
218 | V>I | No |
ClinGen TOPMed |
|
|
CA248345859 rs757451497 |
219 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757451497 CA6959383 |
219 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748075331 CA6959382 |
219 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387910893 rs1386449506 |
221 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754722524 CA6959380 |
223 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA387910812 rs377071174 |
225 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6959378 rs377071174 |
225 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3936326 rs370481725 CA6959379 |
225 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1243190809 CA387910802 |
226 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 228 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463043146 CA387910702 |
229 | D>E | No |
ClinGen gnomAD |
|
|
rs755781376 CA6959377 |
229 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA248345824 rs867547426 |
229 | D>N | No |
ClinGen Ensembl |
|
|
rs749899603 CA6959376 |
232 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs201720205 CA6959375 |
233 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387910605 rs1474695489 |
233 | D>H | No |
ClinGen TOPMed |
|
|
rs761364957 CA6959374 |
234 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6959373 rs774829178 |
236 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764730195 CA6959372 |
237 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs775938052 CA6959370 |
241 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA387910380 rs1854421 |
241 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6959369 VAR_052049 rs1854421 |
241 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA387910378 rs1854421 |
241 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 243 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6959365 rs747149685 |
244 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs377188729 CA6959363 |
245 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6959361 rs779933917 |
247 | R>K | No |
ClinGen ExAC |
|
|
CA387910213 rs1278856110 |
247 | R>W | No |
ClinGen TOPMed |
|
|
rs1417921468 CA387908624 |
248 | K>N | No |
ClinGen gnomAD |
|
|
CA6959353 rs751085839 |
248 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387908637 rs751085839 |
248 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 249 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776228534 CA248344174 |
250 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387908587 rs776228534 |
250 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6959352 rs764451428 |
251 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs373475702 CA6959351 |
253 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 255 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6959349 rs555429143 |
255 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6959348 rs760035202 |
257 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387908420 rs1348057232 |
257 | N>K | No |
ClinGen TOPMed |
|
|
CA387908422 rs760035202 |
257 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227302706 CA387908418 |
258 | I>V | No |
ClinGen TOPMed |
|
|
rs1427456813 CA387908350 |
261 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387908339 rs1336153973 |
261 | M>T | No |
ClinGen TOPMed |
|
|
CA387908319 rs1247356383 |
262 | M>T | No |
ClinGen TOPMed |
|
|
rs1388979137 CA387908308 |
263 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 263 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776987282 CA6959347 |
265 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs978404258 CA248344115 |
266 | K>E | No |
ClinGen TOPMed |
|
|
CA248344114 rs199601303 |
268 | A>E | No |
ClinGen 1000Genomes |
|
|
CA248344108 rs185897036 |
270 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6959331 rs750985643 |
274 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6959329 rs757895673 |
275 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6959328 rs753233954 |
277 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6959326 rs759910674 |
278 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6959327 rs759910674 |
278 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 278 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1226276228 CA387906550 |
279 | D>G | No |
ClinGen gnomAD |
|
|
CA248341432 rs13508 |
279 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_061812 CA6959324 rs13508 |
279 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs13508 CA6959325 |
279 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6959323 rs760983454 |
280 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387906498 rs1443967053 |
281 | E>G | No |
ClinGen gnomAD |
|
|
rs1459362671 CA387906475 |
282 | F>V | No |
ClinGen gnomAD |
|
|
CA387906433 rs1356902948 |
283 | A>V | No |
ClinGen gnomAD |
|
|
CA387906397 rs1377154367 |
285 | Q>* | No |
ClinGen TOPMed |
|
|
rs1448580389 CA387906351 |
287 | A>T | No |
ClinGen TOPMed |
|
|
CA387906313 rs1407552989 |
290 | N>H | No |
ClinGen gnomAD |
|
|
rs150802943 CA6959320 |
291 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139173700 CA6959319 |
293 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387906241 rs139173700 |
293 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769729955 CA6959318 |
294 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745605839 CA6959317 |
294 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs567622797 CA6959316 |
296 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770531505 CA6959315 |
297 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA248341377 rs201048583 |
300 | E>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA387906027 rs1458381086 |
301 | L>Q | No |
ClinGen TOPMed |
|
|
rs202154364 CA248341376 |
302 | I>L | No |
ClinGen 1000Genomes |
|
|
rs375923229 CA6959314 |
306 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 307 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182334009 CA387905793 |
310 | L>P | No |
ClinGen TOPMed |
|
|
rs1225094091 CA387905760 |
311 | W>C | No |
ClinGen gnomAD |
|
|
CA387905765 rs1284745460 |
311 | W>L | No |
ClinGen gnomAD |
|
|
rs1593447191 CA387905683 |
315 | I>V | No |
ClinGen Ensembl |
|
|
CA6959311 rs757919004 |
317 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771635473 CA6959293 |
320 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6959292 rs747642692 |
322 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6959291 rs557779396 |
324 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6959290 rs146322897 |
325 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300836347 CA388004641 |
325 | G>S | No |
ClinGen TOPMed |
|
|
rs1433256189 CA388004612 |
327 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1364125309 CA388004594 |
329 | H>R | No |
ClinGen gnomAD |
|
|
rs372222169 CA6959288 |
330 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372222169 CA388004585 |
330 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA388004570 rs1488010093 |
331 | H>R | No |
ClinGen TOPMed |
|
|
CA388004558 rs1427848862 |
332 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs368447180 CA6959286 |
332 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6959284 rs77896392 |
337 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1158695136 CA388004489 |
338 | L>R | No |
ClinGen gnomAD |
|
|
rs760756520 CA6959282 |
342 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs866083905 CA248992366 |
343 | K>E | No |
ClinGen Ensembl |
|
|
CA388004428 rs1490752119 |
344 | Q>R | No |
ClinGen gnomAD |
|
|
CA388004421 rs1271842004 |
345 | G>R | No |
ClinGen gnomAD |
|
|
CA388004414 rs1420461190 |
345 | G>V | No |
ClinGen TOPMed |
|
|
rs1226143038 CA388004400 |
347 | I>F | No |
ClinGen gnomAD |
|
|
rs867328411 CA248992365 |
347 | I>N | No |
ClinGen Ensembl |
|
|
rs763077902 CA6959281 |
348 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766229410 CA6959279 |
348 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766229410 CA6959280 |
348 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763077902 CA248992364 |
348 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216862252 CA388004378 |
349 | H>P | No |
ClinGen gnomAD |
|
|
CA6959276 rs34392264 |
351 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374234655 CA6959278 |
351 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6959277 rs374234655 |
351 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761521934 CA6959275 |
355 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768272050 CA6959273 |
356 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA248992363 rs371339203 |
357 | G>S | No |
ClinGen ESP TOPMed |
|
|
CA388004258 rs1461498908 |
360 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs748878566 CA6959272 |
360 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 361 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780545918 CA6959271 |
362 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA388004237 rs780545918 |
362 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA388004226 rs1246875402 |
363 | Y>H | No |
ClinGen TOPMed |
|
|
rs1428313616 CA388004217 |
364 | L>I | No |
ClinGen gnomAD |
|
|
rs920342140 CA388004204 |
365 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA248992362 rs920342140 |
365 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs201924592 CA6959268 |
365 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388004207 rs920342140 |
365 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 366 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388004182 rs1194894896 |
366 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA388004191 rs1194894896 |
366 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs757681509 CA6959267 |
371 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388004102 rs1593438737 |
372 | H>R | No |
ClinGen Ensembl |
|
|
rs751760079 CA6959265 |
375 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs752134211 CA6959264 |
376 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs3308 CA248992360 |
378 | N>D | No |
ClinGen Ensembl |
|
| rs1305079288 | 379 | Y>* | No | gnomAD | |
|
rs535639095 CA6959263 |
379 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388004009 rs1237262542 |
379 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 380 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752785049 CA388004001 |
380 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6959262 rs752785049 |
380 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA388003968 rs1399039952 |
382 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 385 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405348537 CA388003937 |
385 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 388 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388003875 rs1416558959 |
390 | S>N | No |
ClinGen TOPMed |
|
|
CA6959257 rs142646038 |
391 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761761204 CA6959256 |
391 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA388003854 rs1593438682 |
392 | I>T | No |
ClinGen Ensembl |
|
|
CA6959255 rs774145864 |
392 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388003835 rs1239701007 |
394 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6959253 rs762497106 |
395 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q92665
No regional properties for Q92665
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q92665 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial small ribosomal subunit | The smaller of the two subunits of a mitochondrial ribosome. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein domain specific binding | Binding to a specific domain of a protein. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| structural constituent of ribosome | The action of a molecule that contributes to the structural integrity of the ribosome. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| mitochondrial translation | The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFPRVSTFLP | LRPLSRHPLS | SGSPETSAAA | IMLLTVRHGT | VRYRSSALLA | RTKNNIQRYF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GTNSVICSKK | DKQSVRTEET | SKETSESQDS | EKENTKKDLL | GIIKGMKVEL | STVNVRTTKP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PKRRPLKSLE | ATLGRLRRAT | EYAPKKRIEP | LSPELVAAAS | AVADSLPFDK | QTTKSELLSQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LQQHEEESRA | QRDAKRPKIS | FSNIISDMKV | ARSATARVRS | RPELRIQFDE | GYDNYPGQEK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TDDLKKRKNI | FTGKRLNIFD | MMAVTKEAPE | TDTSPSLWDV | EFAKQLATVN | EQPLQNGFEE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LIQWTKEGKL | WEFPINNEAG | FDDDGSEFHE | HIFLEKHLES | FPKQGPIRHF | MELVTCGLSK |
| 370 | 380 | 390 | |||
| NPYLSVKQKV | EHIEWFRNYF | NEKKDILKES | NIQFN |