Q86VD7
Gene name |
SLC25A42 |
Protein name |
Mitochondrial coenzyme A transporter SLC25A42 |
Names |
Solute carrier family 25 member 42 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:284439 |
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 Q86VD7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86VD7-F1 | Predicted | AlphaFoldDB |
224 variants for Q86VD7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs864321624 RCV000412490 VAR_082152 RCV000203566 CA279953 RCV000984915 |
291 | N>D | SLC25A42-related mitochondrial disorder Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression Inborn mitochondrial myopathy MECREN; loss-of-function variant unable to rescue motor deficiencies in zebrafish morphants [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA9321312 rs377407327 |
3 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA404886646 rs1289006703 |
7 | E>D | No |
ClinGen gnomAD |
|
|
rs1449812385 CA404886652 |
8 | G>C | No |
ClinGen gnomAD |
|
|
rs1223416165 CA404886669 |
8 | G>D | No |
ClinGen gnomAD |
|
|
rs1449812385 CA404886656 |
8 | G>S | No |
ClinGen gnomAD |
|
|
rs117940121 CA9321313 |
9 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404886710 rs117940121 |
9 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773838795 CA9321315 |
10 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA306285630 rs996227499 |
11 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9321316 rs761258835 |
11 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9321317 rs767022538 |
13 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA9321318 rs571380861 |
15 | D>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs756604951 CA9321320 |
15 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9321322 rs755219312 |
17 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1344961227 CA404886879 |
18 | A>S | No |
ClinGen gnomAD |
|
|
rs748394350 CA9321324 |
22 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9321328 rs745768284 |
24 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9321327 rs745768284 |
24 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA306285656 rs12983184 |
26 | S>* | No |
ClinGen Ensembl |
|
|
CA9321330 rs749095738 |
27 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771749461 CA9321361 |
28 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771749461 CA404888798 |
28 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112742931 CA9321362 |
28 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA306287442 rs1052694166 |
34 | L>P | No |
ClinGen TOPMed |
|
|
CA9321364 rs770485122 |
35 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1022873578 CA306287452 |
36 | S>F | No |
ClinGen gnomAD |
|
|
rs765645817 CA9321368 |
37 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs138517933 CA9321367 |
37 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17854359 CA306287463 VAR_032970 |
39 | S>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA306287466 rs369633428 |
40 | G>A | No |
ClinGen ESP TOPMed |
|
|
CA404888966 rs1568521782 |
41 | A>V | No |
ClinGen Ensembl |
|
|
rs1253839907 CA404888973 |
42 | L>P | No |
ClinGen gnomAD |
|
|
CA404888983 rs1346706156 |
43 | A>G | No |
ClinGen gnomAD |
|
|
rs535457015 CA306287468 |
49 | T>I | No |
ClinGen Ensembl |
|
|
CA9321370 rs763264125 |
50 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 53 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 59 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404889312 rs1184944921 |
60 | I>V | No |
ClinGen gnomAD |
|
|
CA306288296 rs947589044 |
65 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9321416 rs758381313 |
75 | R>Q | No |
ClinGen ExAC |
|
|
rs1599689695 CA404891562 |
78 | Y>S | No |
ClinGen Ensembl |
|
|
CA9321418 rs372578398 |
79 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 80 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599689702 CA404891689 |
80 | T>P | No |
ClinGen Ensembl |
|
|
CA306288470 rs752702761 CA306288472 |
83 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9321421 rs745521216 |
88 | S>T | No |
ClinGen ExAC |
|
|
rs1276311844 CA404892347 |
97 | M>I | No |
ClinGen gnomAD |
|
|
rs1409744970 CA404892337 |
97 | M>V | No |
ClinGen gnomAD |
|
|
rs138036287 CA9321427 |
100 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000735224 rs1568523935 CA404892453 |
103 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9321428 rs772332647 |
104 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404892456 rs1218472304 |
104 | A>T | No |
ClinGen gnomAD |
|
|
CA9321429 rs531748523 |
105 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA306288486 rs960278892 |
106 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760915278 CA404892533 |
107 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306288493 rs916048583 |
110 | A>T | No |
ClinGen TOPMed |
|
|
rs776738600 CA9321432 |
110 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9321434 rs764158605 |
112 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs762767863 CA9321433 |
112 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9321435 rs751466309 |
113 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751466309 CA404892682 |
113 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751466309 CA9321436 |
113 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423955807 CA404892710 |
114 | Y>H | No |
ClinGen gnomAD |
|
|
rs767453952 CA9321437 |
115 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9321439 rs755883383 |
116 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA404892772 rs1428594464 |
116 | R>H | No |
ClinGen gnomAD |
|
|
CA404892774 rs1428594464 |
116 | R>L | No |
ClinGen gnomAD |
|
|
CA404892765 rs755883383 |
116 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs779681889 CA9321440 |
117 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9321442 rs141712568 |
119 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9321443 rs141712568 |
119 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs772439531 CA9321445 |
120 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9321444 rs748604140 |
120 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778129613 CA9321446 |
122 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226313827 CA404893001 |
124 | F>V | No |
ClinGen gnomAD |
|
|
CA9321448 rs771181259 |
125 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404893055 rs766495888 |
126 | G>E | No |
ClinGen gnomAD |
|
|
CA306288537 rs766495888 |
126 | G>V | No |
ClinGen gnomAD |
|
|
rs1447440705 CA404893210 |
128 | A>S | No |
ClinGen gnomAD |
|
|
rs199634097 CA9321472 |
131 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs950963322 CA306288861 |
131 | P>L | No |
ClinGen TOPMed |
|
|
rs10421670 CA306288863 |
132 | W>R | No |
ClinGen Ensembl |
|
|
rs772204985 CA9321474 |
133 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9321473 rs748090374 |
133 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 134 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404893414 rs1236169194 |
138 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs776302265 CA9321478 |
139 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9321479 rs776302265 |
139 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1599690689 CA404893483 |
140 | L>R | No |
ClinGen Ensembl |
|
|
CA404893494 rs1599690694 |
141 | A>V | No |
ClinGen Ensembl |
|
|
rs758900040 CA404893526 |
143 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758900040 CA9321483 |
143 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764642274 CA9321484 |
144 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs752073615 CA9321485 |
146 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9321486 rs757578000 |
148 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1293888469 CA404893706 |
151 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781433451 CA9321487 |
151 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173741072 CA404893841 |
157 | A>S | No |
ClinGen TOPMed |
|
|
CA404893884 rs1275885523 |
160 | A>T | No |
ClinGen gnomAD |
|
|
CA9321493 rs773221554 |
161 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9321494 rs746971555 |
163 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9321520 rs773892280 |
167 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA9321522 rs767968883 |
169 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA404895098 rs1208457977 |
170 | I>M | No |
ClinGen gnomAD |
|
|
CA9321523 rs372172962 |
171 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149585119 CA9321524 COSM4140426 |
176 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9321525 rs766802370 |
176 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA404895280 COSM1391779 rs1323880492 |
178 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA404895282 rs1323880492 |
178 | S>W | No |
ClinGen TOPMed |
|
|
CA9321528 rs779102013 |
179 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs980923440 CA306289606 |
180 | E>A | No |
ClinGen Ensembl |
|
|
CA9321529 rs373877778 |
180 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1341318042 CA404895349 |
182 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9321532 rs745821632 |
184 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA404895529 rs1383451180 |
189 | G>R | No |
ClinGen gnomAD |
|
|
rs1296866032 CA404895593 |
191 | M>L | No |
ClinGen gnomAD |
|
|
CA9321535 rs779873546 |
191 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs144256360 CA404895633 |
192 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9321536 rs144256360 |
192 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404895684 rs773840865 |
194 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs773840865 CA9321538 |
194 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs761173709 CA9321539 |
198 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs140711318 CA9321540 |
199 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372199103 CA306289648 |
199 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs925587101 CA306289655 |
201 | A>G | No |
ClinGen TOPMed |
|
|
rs531577760 CA306289652 |
201 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 202 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 205 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs946741937 CA306289657 |
207 | T>I | No |
ClinGen Ensembl |
|
|
rs1599692607 CA404896011 |
208 | Y>S | No |
ClinGen Ensembl |
|
|
CA306289668 rs866770230 |
209 | E>* | No |
ClinGen Ensembl |
|
|
CA9321544 rs546562344 |
210 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765611053 CA9321546 |
211 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 211 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs921374052 CA306289701 |
215 | H>R | No |
ClinGen TOPMed |
|
|
rs45546936 CA9321547 |
216 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1568527029 CA404897337 |
218 | Y>F | No |
ClinGen Ensembl |
|
|
rs1055727120 CA306290683 |
219 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA404897360 rs1376066628 |
219 | S>R | No |
ClinGen gnomAD |
|
|
rs771630381 CA9321560 |
221 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404897398 rs1239069686 |
222 | R>P | No |
ClinGen Ensembl |
|
|
rs777120256 CA9321561 |
222 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236616644 CA404897444 |
225 | Y>C | No |
ClinGen gnomAD |
|
|
CA404897461 rs759920889 |
226 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759920889 CA9321562 |
226 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404897457 rs1282312225 |
226 | P>S | No |
ClinGen gnomAD |
|
|
rs1230952932 CA404897484 |
227 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs895873119 CA306290698 |
228 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404897488 rs895873119 |
228 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1249360443 CA404897516 |
229 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404897513 rs1249360443 |
229 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA404897502 rs1177389428 |
229 | R>S | No |
ClinGen gnomAD |
|
|
rs1266266431 CA404897546 |
231 | I>T | No |
ClinGen gnomAD |
|
|
CA306290707 rs1042233979 |
235 | C>F | No |
ClinGen Ensembl |
|
|
rs950156951 CA306290702 |
235 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1174987439 CA404897616 |
235 | C>W | No |
ClinGen gnomAD |
|
|
CA404897619 rs1162718866 |
236 | A>T | No |
ClinGen TOPMed |
|
|
rs1442899779 CA404897747 |
237 | G>S | No |
ClinGen TOPMed |
|
|
CA404897779 rs1179520685 |
238 | L>F | No |
ClinGen TOPMed |
|
|
CA404897810 rs775814532 |
239 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404897801 rs1169384229 |
239 | I>V | No |
ClinGen gnomAD |
|
|
rs1356610610 CA404897828 |
240 | G>V | No |
ClinGen gnomAD |
|
|
rs1224324207 CA404897830 |
241 | Q>E | No |
ClinGen TOPMed |
|
|
CA9321565 rs763284891 |
242 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs751729984 CA9321567 |
244 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA404897860 rs1467434357 |
245 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404897871 rs1213894287 |
246 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404897867 rs1341622062 |
246 | P>S | No |
ClinGen gnomAD |
|
|
rs1270839683 CA404897883 |
248 | D>V | No |
ClinGen gnomAD |
|
|
rs752146829 CA9321568 |
249 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375781278 CA404897891 |
250 | V>M | No |
ClinGen TOPMed |
|
|
CA404897903 rs1466860714 |
252 | R>W | No |
ClinGen gnomAD |
|
|
CA404897960 rs778705985 |
261 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9321572 rs778705985 |
261 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306290761 rs375217405 |
262 | Y>N | No |
ClinGen TOPMed |
|
|
rs1322574500 CA404897976 |
263 | P>R | No |
ClinGen gnomAD |
|
|
CA9321574 rs533458331 |
265 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA404897996 rs1164528950 |
267 | I>V | No |
ClinGen gnomAD |
|
|
CA9321576 rs746585668 |
268 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746585668 CA404898003 |
268 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202000540 CA9321577 |
269 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1018628231 CA306290775 |
269 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404898012 rs1364502145 |
270 | T>A | No |
ClinGen gnomAD |
|
|
CA306290780 rs370533233 |
270 | T>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA404898023 rs1406128986 |
272 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA306290784 rs1020157107 |
274 | I>V | No |
ClinGen TOPMed |
|
|
CA404898039 rs1246592621 |
275 | V>M | No |
ClinGen TOPMed |
|
|
rs200692918 CA404898048 |
276 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200692918 CA404898047 |
276 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200692918 CA9321578 |
276 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272312180 CA404898053 |
277 | E>G | No |
ClinGen gnomAD |
|
|
CA404898049 rs1214871623 |
277 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560478326 CA9321580 |
281 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404898085 rs1213053769 |
282 | R>H | No |
ClinGen gnomAD |
|
|
rs1287540218 CA404898082 |
282 | R>S | No |
ClinGen TOPMed |
|
|
CA9321582 rs763081314 |
283 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1281755886 CA404898093 |
284 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1187948506 CA404898110 |
286 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 287 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA306290816 COSM460014 rs764432730 |
288 | L>F | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA404898125 rs1220702211 |
288 | L>W | No |
ClinGen TOPMed |
|
|
CA9321585 rs761812479 |
290 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1388204344 CA404898171 |
293 | V>F | No |
ClinGen gnomAD |
|
|
rs1320371846 CA404898182 |
294 | K>E | No |
ClinGen gnomAD |
|
|
rs1320371846 CA404898180 |
294 | K>Q | No |
ClinGen gnomAD |
|
|
rs1599695310 CA404898198 |
295 | G>V | No |
ClinGen Ensembl |
|
|
CA404898225 rs1403029465 |
298 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 301 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404898271 rs1431371391 |
302 | S>C | No |
ClinGen gnomAD |
|
|
rs140099041 CA9321589 |
304 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234931232 CA404898365 |
310 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9321591 rs757977417 |
311 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9321590 rs752608316 |
311 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17854358 CA306290831 VAR_032971 |
312 | L>M | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs529307843 CA9321592 |
314 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs529307843 CA404898409 |
314 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 314 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9321593 rs781548124 |
315 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415349573 CA404898423 |
315 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 316 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q86VD7
[MIM: 618416]: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (MECREN)
An autosomal recessive disease characterized by muscle weakness, developmental delay, lactic acidosis, and encephalopathy. The severity of the clinical manifestations is highly variable even within affected individuals of the same family, ranging from asymptomatic lactic acidosis to severe developmental regression, epilepsy, intellectual disability, metabolic crisis, and multiorgan involvement. {ECO:0000269|PubMed:26541337, ECO:0000269|PubMed:29327420, ECO:0000269|PubMed:29923093, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disease characterized by muscle weakness, developmental delay, lactic acidosis, and encephalopathy. The severity of the clinical manifestations is highly variable even within affected individuals of the same family, ranging from asymptomatic lactic acidosis to severe developmental regression, epilepsy, intellectual disability, metabolic crisis, and multiorgan involvement. {ECO:0000269|PubMed:26541337, ECO:0000269|PubMed:29327420, ECO:0000269|PubMed:29923093, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q86VD7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | DNA mismatch repair, conserved site | 123 - 129 | IPR014762 |
| repeat | Mitochondrial substrate/solute carrier | 31 - 119 | IPR018108-1 |
| repeat | Mitochondrial substrate/solute carrier | 129 - 216 | IPR018108-2 |
| repeat | Mitochondrial substrate/solute carrier | 224 - 313 | IPR018108-3 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| 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. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ADP phosphatase activity | Catalysis of the reaction: ADP + H2O = AMP + phosphate. |
| ADP transmembrane transporter activity | Enables the transfer of ADP, adenosine diphosphate, from one side of a membrane to the other. |
| AMP transmembrane transporter activity | Enables the transfer of AMP, adenosine monophosphate, from one side of a membrane to the other. |
| ATP transmembrane transporter activity | Enables the transfer of ATP, adenosine triphosphate, from one side of a membrane to the other. |
| coenzyme A transmembrane transporter activity | Enables the transfer of coenzyme A from one side of a membrane to the other. Coenzyme A, 3'-phosphoadenosine-(5')diphospho(4')pantatheine, is an acyl carrier in many acylation and acyl-transfer reactions in which the intermediate is a thiol ester. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| ADP transport | The directed movement of ADP, adenosine diphosphate, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| AMP transport | The directed movement of AMP, adenosine monophosphate, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| ATP transport | The directed movement of ATP, adenosine triphosphate, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| coenzyme A transmembrane transport | The process in which coenzyme A is transported across a membrane. Coenzyme A, 3'-phosphoadenosine-(5')diphospho(4')pantatheine, is an acyl carrier in many acylation and acyl-transfer reactions in which the intermediate is a thiol ester. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGNGVKEGPV | RLHEDAEAVL | SSSVSSKRDH | RQVLSSLLSG | ALAGALAKTA | VAPLDRTKII |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FQVSSKRFSA | KEAFRVLYYT | YLNEGFLSLW | RGNSATMVRV | VPYAAIQFSA | HEEYKRILGS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YYGFRGEALP | PWPRLFAGAL | AGTTAASLTY | PLDLVRARMA | VTPKEMYSNI | FHVFIRISRE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EGLKTLYHGF | MPTVLGVIPY | AGLSFFTYET | LKSLHREYSG | RRQPYPFERM | IFGACAGLIG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QSASYPLDVV | RRRMQTAGVT | GYPRASIART | LRTIVREEGA | VRGLYKGLSM | NWVKGPIAVG |
| 310 | |||||
| ISFTTFDLMQ | ILLRHLQS |