O43766
PR
Gene name |
LIAS |
Protein name |
Lipoyl synthase, mitochondrial |
Names |
Lipoate synthase, LS, Lip-syn, Lipoic acid synthase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11019 |
EC number |
2.8.1.8: Sulfurtransferases |
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 O43766
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O43766-F1 | Predicted | AlphaFoldDB |
279 variants for O43766
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001065491 rs1401099440 CA356663473 |
4 | R>L | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001201438 CA356663478 rs1250162017 |
5 | C>S | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1473782911 RCV001324163 CA356663480 |
5 | C>W | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003222213 RCV001065076 rs368786581 CA2894536 |
7 | D>V | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA356663498 RCV000813169 rs1467308371 |
8 | A>V | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA356663505 RCV000650018 rs1370681479 |
10 | R>H | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000650027 CA315735 rs147516123 |
11 | T>S | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000687196 rs1436660040 CA356663513 |
12 | L>Q | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000697865 rs1320749254 CA356663516 |
13 | G>R | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs751814381 RCV001321705 CA2894565 |
17 | F>S | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2894568 RCV000442643 RCV003168627 rs140921822 RCV000712219 RCV001082170 |
19 | R>S | Lipoic acid synthetase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001216725 rs1744443342 |
19 | R>T | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000650023 rs960319940 |
22 | C>missing | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001041713 CA95724854 rs529501318 |
22 | C>W | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001331651 rs773069554 CA2894573 |
26 | R>G | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002544898 rs369125654 RCV000690970 CA2894575 |
27 | P>L | Lipoic acid synthetase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001303796 rs796052701 RCV000188052 CA315747 |
30 | S>F | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2894581 RCV001304427 rs185737442 |
34 | K>R | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2894582 RCV000823167 rs199942447 |
36 | K>N | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2894583 rs763606110 RCV000650019 |
37 | E>V | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000542397 CA95724946 rs1041843537 |
40 | Q>H | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs761295906 CA315749 RCV000548048 RCV000188053 |
41 | N>S | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356663741 RCV000700357 rs1184621128 |
47 | D>G | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA356663765 rs1191295540 RCV001331650 |
51 | G>D | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1744463777 RCV001308506 |
55 | D>N | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs141723499 RCV000650020 CA2894601 |
58 | T>I | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001209580 rs1417695501 |
71 | G>missing | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356663914 rs1172950083 RCV000526052 |
73 | R>T | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1744535027 RCV001340652 |
81 | K>R | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356663984 rs1560666276 RCV000698183 |
82 | T>A | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001223318 rs1355425067 |
89 | N>missing | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214949 CA356664036 rs1230898917 |
89 | N>I | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001208252 RCV000627392 rs1553934069 |
92 | K>* | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696446 CA315751 rs796052702 |
98 | R>W | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001040465 rs1744543385 |
100 | L>I | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000325207 rs886043545 RCV001855181 CA10605640 |
101 | N>D | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2894644 RCV001037519 rs773238728 |
110 | R>Q | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2894646 RCV000650016 RCV000730078 rs747124026 |
111 | C>S | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753615027 RCV001231307 CA2894647 |
116 | E>D | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000650024 rs1553934199 |
122 | E>missing | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227498 CA2894655 rs142293392 |
129 | T>M | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001308548 rs774320280 CA2894683 |
133 | M>I | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000698810 CA2894685 rs772011702 |
135 | D>H | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356664423 RCV001869372 RCV000992275 rs1196830198 |
145 | S>T | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001206495 rs1744706299 |
148 | T>missing | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001230201 CA95728830 rs977337132 |
149 | A>G | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs751421705 RCV000650026 CA2894692 |
158 | S>T | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000210221 CA351355 rs869320760 |
159 | E>K | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1744708135 RCV001174542 |
159 | E>K | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219128 CA356664542 rs1485721291 |
163 | T>I | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001204325 rs1553934355 CA315754 |
181 | D>V | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070988 CA95728909 rs906832972 |
183 | D>G | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216983 rs1744715001 |
184 | D>E | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356664718 rs1210720598 RCV000706297 |
188 | G>A | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001257439 rs1744715983 |
196 | T>N | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143321910 CA2894712 RCV001215937 |
197 | V>I | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA356664778 rs1553934367 RCV000650025 |
198 | S>T | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1744716622 RCV001232566 |
199 | Y>H | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1328126199 RCV001232815 CA356664848 |
206 | K>E | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000805881 rs1196873747 CA356664858 |
207 | I>S | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000188057 CA315756 RCV000822700 RCV002516996 rs374709255 |
213 | T>A | Lipoic acid synthetase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1744806313 RCV001195900 |
215 | D>missing | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs869312808 RCV000210212 CA353555 |
215 | D>E | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003163178 rs1560669433 CA356664906 RCV000694316 |
215 | D>N | Lipoic acid synthetase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs570807277 RCV000700777 CA2894736 |
217 | R>Q | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA95730225 rs1021766315 RCV000703724 |
219 | D>E | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001205828 rs1744807781 |
222 | A>* | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356664995 RCV000650015 rs1553934545 |
228 | L>P | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001203074 rs1475625272 |
234 | Y>F | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001861643 RCV002525523 RCV000426756 rs1057524792 CA16604617 |
236 | H>Q | Lipoic acid synthetase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000693760 CA2894743 rs746107734 |
242 | P>L | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000023604 CA129378 rs144133667 VAR_067839 |
249 | R>H | Lipoic acid synthetase deficiency HGCLAS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000687154 rs146513468 CA2894769 |
251 | P>S | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs775053206 CA2894770 RCV001325309 |
252 | R>W | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356665187 RCV000815783 rs1427248293 |
257 | Q>E | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001207240 CA2894774 rs367701436 |
260 | R>H | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1375530921 CA356665224 RCV001343478 |
263 | K>R | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1560671038 CA356665246 RCV000698446 |
266 | K>R | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2894777 RCV001208619 rs140846573 |
269 | Q>H | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA356665322 rs528498907 RCV000805721 |
278 | I>L | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001295942 rs1744928054 |
278 | I>T | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA315739 RCV000188048 rs796052699 RCV000801566 |
284 | E>K | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001237915 rs1744929854 |
290 | Y>F | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA315741 RCV001852472 rs769256159 RCV000188049 |
291 | A>V | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA95731542 RCV001331649 rs943564525 RCV000730292 |
293 | M>V | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1744930458 RCV001060081 |
294 | K>E | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001300145 rs774997711 CA2894785 |
295 | A>T | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756021613 RCV000704982 CA2894802 |
297 | R>H | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1744968826 RCV001214501 |
298 | E>D | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000730707 CA356665498 RCV000807984 rs1206469888 |
302 | D>G | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001306068 rs1744970129 |
306 | L>S | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000188050 rs796052700 CA315743 RCV001296340 |
310 | M>I | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1397998638 RCV001339145 CA356665588 |
315 | R>C | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000712220 RCV000650017 rs145535775 CA315745 |
315 | R>H | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1578243031 RCV001318898 |
316 | H>R | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1481336454 RCV001350868 CA356665702 |
330 | Y>H | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001302422 rs1745057681 |
346 | G>D | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779790258 RCV001047014 CA95733086 |
350 | R>H | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001318448 rs1745058560 |
353 | Y>H | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1745058899 RCV001257440 |
355 | A>P | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1560674852 RCV000700186 |
369 | T>missing | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1745219682 RCV001209131 |
371 | D>E | Lipoic acid synthetase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372288500 CA2894532 |
2 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1299862454 CA356663470 |
4 | R>C | No |
ClinGen TOPMed |
|
|
CA2894533 CA356663483 rs769950134 |
6 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2894535 rs761633225 |
7 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA356663500 rs999105881 |
9 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA95723731 rs999105881 |
9 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs143267758 CA95723770 |
10 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356663507 rs1370681479 |
10 | R>L | No |
ClinGen gnomAD |
|
|
rs143267758 CA2894539 |
10 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356663511 rs573005019 |
11 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2894540 rs573005019 |
11 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1436660040 CA356663514 |
12 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA95723785 rs947116408 |
12 | L>V | No |
ClinGen Ensembl |
|
|
rs1187910864 CA356663520 |
13 | G>E | No |
ClinGen gnomAD |
|
|
rs184218786 CA2894544 |
15 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184218786 CA2894543 |
15 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356663529 rs1432601912 |
15 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1465331415 CA356663545 |
16 | V>L | No |
ClinGen gnomAD |
|
|
rs751814381 CA2894566 |
17 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2894569 rs539841597 |
20 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768692068 CA2894572 |
24 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs746748677 CA2894574 |
26 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs371654731 CA2894576 |
29 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374851959 CA2894577 |
33 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764858363 CA2894580 |
34 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369602889 CA2894584 |
37 | E>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2894585 rs757663628 |
38 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2894586 rs767850382 |
38 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA2894588 rs756576591 |
40 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs373034096 CA2894589 |
41 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2894591 rs778957920 |
42 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1301531477 CA356663715 |
43 | P>L | No |
ClinGen gnomAD |
|
|
CA356663725 rs1474947142 |
45 | L>V | No |
ClinGen gnomAD |
|
|
rs770898487 CA2894593 |
46 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2894594 rs776552101 |
48 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs775089515 CA2894597 |
50 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs775089515 CA2894598 |
50 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA356663787 rs1249528670 |
54 | A>V | No |
ClinGen gnomAD |
|
|
rs774043170 CA2894600 |
57 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381913337 CA356663811 |
58 | T>A | No |
ClinGen TOPMed |
|
|
rs141723499 CA95725039 |
58 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA95725040 rs766515381 |
59 | W>C | No |
ClinGen Ensembl |
|
|
CA356663843 rs1407073548 |
62 | Y>C | No |
ClinGen gnomAD |
|
|
rs1350478816 CA356663857 |
64 | G>E | No |
ClinGen gnomAD |
|
|
CA2894602 rs767940352 |
66 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356663885 rs1367662554 |
68 | R>L | No |
ClinGen gnomAD |
|
|
rs761255298 CA2894604 |
70 | K>Q | No |
ClinGen ExAC |
|
|
CA95725065 COSM3825823 rs753903111 |
71 | G>E | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753903111 CA2894605 |
71 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2894607 rs755048721 |
72 | E>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000188055 rs796052703 |
73 | R>missing | No |
ClinVar dbSNP |
|
|
CA2894623 rs149610559 |
85 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2894624 rs760073792 |
86 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs557625155 CA2894626 |
92 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765478919 CA2894625 |
92 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA2894627 rs758718496 |
94 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA95727327 rs778102429 |
96 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2894628 rs778102429 |
96 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356664093 rs1210597793 |
98 | R>Q | No |
ClinGen gnomAD |
|
|
rs1474214475 CA356664119 |
102 | L>V | No |
ClinGen gnomAD |
|
|
rs779888885 CA2894629 |
104 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2894641 rs775744955 |
105 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2894643 rs764248088 |
110 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754927642 CA2894648 |
118 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183607358 CA356664255 |
120 | G>V | No |
ClinGen TOPMed |
|
|
rs778779575 CA2894649 |
121 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs748043591 CA2894650 |
122 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA95727970 rs866532098 |
124 | A>V | No |
ClinGen Ensembl |
|
|
CA2894651 rs757949807 |
125 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs74528014 CA95727978 |
126 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74528014 CA2894653 |
126 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199754431 CA2894654 |
127 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs761909332 CA2894684 |
134 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA356664354 rs772011702 |
135 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955480729 CA95728809 |
136 | T>I | No |
ClinGen TOPMed |
|
|
CA356664392 rs1578236671 |
140 | G>V | No |
ClinGen Ensembl |
|
|
CA2894687 rs760870251 |
142 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA356664438 rs1261615228 |
147 | K>T | No |
ClinGen TOPMed |
|
|
rs752422803 CA2894689 |
148 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA356664451 rs977337132 |
149 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA356664448 rs1341034981 |
149 | A>T | No |
ClinGen gnomAD |
|
|
rs764042926 CA2894691 |
156 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs762889659 CA2894690 |
156 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776084575 CA95728862 |
160 | P>L | No |
ClinGen Ensembl |
|
|
CA356664526 rs1261548013 |
161 | Y>F | No |
ClinGen gnomAD |
|
|
CA95728873 rs200619391 |
164 | A>V | No |
ClinGen 1000Genomes |
|
|
CA356664558 rs1258844518 |
166 | A>S | No |
ClinGen gnomAD |
|
|
rs756842628 CA2894693 |
167 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs764437051 CA95728882 |
176 | V>A | No |
ClinGen Ensembl |
|
|
CA356664662 rs1159319400 |
182 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1173966144 CA356664663 |
182 | R>Q | No |
ClinGen TOPMed |
|
|
CA95728905 rs539712755 |
183 | D>Y | No |
ClinGen Ensembl |
|
|
CA356664696 rs1261867912 |
185 | M>T | No |
ClinGen TOPMed |
|
|
rs775283873 CA2894708 |
189 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs763776034 CA2894710 |
192 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs143321910 CA2894713 |
197 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2894714 rs749898791 |
200 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755855078 CA2894715 |
201 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs779816522 CA2894716 |
203 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs765961914 CA2894734 |
207 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356664897 rs1268712461 |
213 | T>I | No |
ClinGen TOPMed |
|
|
rs1364698611 CA356664902 |
214 | P>S | No |
ClinGen gnomAD |
|
|
CA95730214 rs997841253 |
217 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1220049506 CA356664924 |
218 | G>S | No |
ClinGen TOPMed |
|
|
rs1318185631 CA356664939 |
220 | L>F | No |
ClinGen TOPMed |
|
|
rs1305210612 CA356664941 |
220 | L>P | No |
ClinGen gnomAD |
|
|
CA2894737 rs752945214 |
222 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA356664972 rs1273396836 |
225 | K>E | No |
ClinGen gnomAD |
|
|
CA356664985 rs1273713669 |
227 | A>T | No |
ClinGen TOPMed |
|
|
CA356665001 rs1578239084 |
229 | S>L | No |
ClinGen Ensembl |
|
|
CA356665016 rs1332752187 |
232 | D>H | No |
ClinGen TOPMed |
|
|
CA356665020 rs1211583618 |
232 | D>V | No |
ClinGen gnomAD |
|
|
CA356665028 rs1249591053 |
233 | V>A | No |
ClinGen gnomAD |
|
|
CA356665033 rs1475625272 |
234 | Y>C | No |
ClinGen gnomAD |
|
|
rs758964059 CA2894738 |
235 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA356665047 rs1560669537 |
236 | H>R | No |
ClinGen Ensembl |
|
|
CA356665044 rs1426782379 |
236 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs778212967 CA2894739 |
237 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs747481841 CA2894740 |
238 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2894742 rs781244159 |
240 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461186521 CA356665072 |
240 | T>P | No |
ClinGen gnomAD |
|
|
CA356665083 rs1347261424 |
242 | P>S | No |
ClinGen gnomAD |
|
|
CA95731447 rs973950955 |
248 | V>A | No |
ClinGen Ensembl |
|
|
CA2894768 rs370986468 |
248 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1578241714 CA356665141 |
249 | R>C | No |
ClinGen Ensembl |
|
|
CA356665144 rs1406165999 |
250 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2894771 rs762590825 |
252 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs961150638 RCV000433164 CA16605102 |
253 | A>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs17856701 CA95731469 |
253 | A>V | No |
ClinGen Ensembl |
|
|
CA95731475 rs866291718 |
254 | N>S | No |
ClinGen Ensembl |
|
|
rs751866383 CA2894773 |
256 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1578241808 CA356665189 |
257 | Q>L | No |
ClinGen Ensembl |
|
|
rs373816064 CA95731480 |
260 | R>C | No |
ClinGen ESP gnomAD |
|
|
CA356665205 rs373816064 |
260 | R>S | No |
ClinGen ESP gnomAD |
|
|
rs1279488186 CA356665230 |
264 | H>Y | No |
ClinGen gnomAD |
|
|
rs1428488190 CA356665243 |
266 | K>E | No |
ClinGen TOPMed |
|
|
rs371831096 CA356665259 |
268 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371831096 CA2894775 |
268 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1331984873 CA356665311 |
276 | T>P | No |
ClinGen TOPMed |
|
|
rs755181898 CA2894780 |
277 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1194710996 CA356665327 |
278 | I>M | No |
ClinGen gnomAD |
|
|
CA2894781 rs528498907 |
278 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1310167452 CA356665344 |
281 | G>S | No |
ClinGen gnomAD |
|
|
rs1306889950 CA356665378 |
286 | D>N | No |
ClinGen TOPMed |
|
|
rs1560671106 CA356665387 |
287 | E>K | No |
ClinGen Ensembl |
|
|
CA2894783 rs781031708 |
288 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs978157328 CA95731524 |
289 | V>E | No |
ClinGen Ensembl |
|
|
rs1396281699 CA356665438 |
294 | K>I | No |
ClinGen gnomAD |
|
|
CA95732011 rs1028624548 |
295 | A>V | No |
ClinGen Ensembl |
|
|
CA356665466 rs756021613 |
297 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA95732021 rs748175505 |
299 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs748175505 CA356665478 |
299 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356665483 rs1419313623 |
300 | D>A | No |
ClinGen gnomAD |
|
|
CA356665488 rs1176903872 |
301 | V>I | No |
ClinGen Ensembl |
|
|
rs1433596449 CA356665518 |
305 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1243940085 CA356665533 |
307 | G>E | No |
ClinGen TOPMed |
|
|
CA2894804 rs748758952 |
310 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA356665572 rs1314594250 |
312 | P>L | No |
ClinGen TOPMed |
|
|
CA356665585 rs1384158900 |
314 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1397998638 CA356665586 |
315 | R>S | No |
ClinGen gnomAD |
|
|
CA356665596 rs1578243031 |
316 | H>P | No |
ClinGen Ensembl |
|
|
CA356665598 rs1357395665 |
316 | H>Q | No |
ClinGen gnomAD |
|
|
CA95732068 rs1019850994 |
318 | K>T | No |
ClinGen Ensembl |
|
|
rs754544230 CA2894840 |
324 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs778394992 CA2894841 |
325 | P>S | No |
ClinGen ExAC |
|
|
rs1064793165 CA16618046 RCV000478591 |
328 | F>Y | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs771693497 CA2894843 |
338 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771167419 CA2894846 |
343 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2894848 rs760106768 |
350 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs969833009 CA95733087 |
353 | Y>S | No |
ClinGen TOPMed |
|
|
CA2894872 rs373707167 |
356 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356665878 rs1445008677 |
356 | G>S | No |
ClinGen gnomAD |
|
|
rs148840111 CA95734581 |
358 | F>C | No |
ClinGen ESP ExAC |
|
|
rs148840111 CA2894873 |
358 | F>Y | No |
ClinGen ESP ExAC |
|
|
rs1302864594 CA356665951 |
364 | V>M | No |
ClinGen Ensembl |
|
|
CA356665987 rs1243760001 |
369 | T>A | No |
ClinGen gnomAD |
|
|
CA95734585 rs754230353 |
371 | D>H | No |
ClinGen Ensembl |
1 associated diseases with O43766
[MIM: 614462]: Hyperglycinemia, lactic acidosis, and seizures (HGCLAS)
An enzymatic defect resulting in an autosomal recessive disorder of mitochondrial metabolism. It is characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect. Affected individuals have neonatal-onset epilepsy, poor growth, psychomotor retardation, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. {ECO:0000269|PubMed:22152680}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An enzymatic defect resulting in an autosomal recessive disorder of mitochondrial metabolism. It is characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect. Affected individuals have neonatal-onset epilepsy, poor growth, psychomotor retardation, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. {ECO:0000269|PubMed:22152680}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.8.1.8 | Sulfurtransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| 4 iron, 4 sulfur cluster binding | Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands. |
| lipoate synthase activity | Catalysis of the reaction: protein N6-(octanoyl)lysine + 2 sulfur + 2 S-adenosyl-L-methionine = protein N6-(lipoyl)lysine + 2 L-methionine + 2 5'-deoxyadenosyl. |
| metal ion binding | Binding to a metal ion. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| lipoate biosynthetic process | The chemical reactions and pathways resulting in the formation of lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. |
| neural tube closure | The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. |
| protein lipoylation | The lipoylation of peptidyl-lysine to form peptidyl-N6-lipoyl-L-lysine. |
| response to lipopolysaccharide | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| response to oxidative stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5BIP7 | LIAS | Lipoyl synthase, mitochondrial | Bos taurus (Bovine) | PR |
| Q7JQW6 | Las | Lipoyl synthase, mitochondrial | Drosophila melanogaster (Fruit fly) | PR |
| B6TN12 | LIP1P-1 | Lipoyl synthase 1, chloroplastic | Zea mays (Maize) | PR |
| B9N2B0 | LIP1P-2 | Lipoyl synthase 2, chloroplastic | Populus trichocarpa (Western balsam poplar) (Populus balsamifera subsp. trichocarpa) | PR |
| B9I666 | LIP1P-1 | Lipoyl synthase 1, chloroplastic | Populus trichocarpa (Western balsam poplar) (Populus balsamifera subsp. trichocarpa) | PR |
| Q5XIH4 | Lias | Lipoyl synthase, mitochondrial | Rattus norvegicus (Rat) | PR |
| Q5ZAQ2 | LIP1P-1 | Lipoyl synthase 1, chloroplastic | Oryza sativa subsp japonica (Rice) | PR |
| Q8LEE8 | LIP1P | Lipoyl synthase, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLRCGDAAR | TLGPRVFGRY | FCSPVRPLSS | LPDKKKELLQ | NGPDLQDFVS | GDLADRSTWD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EYKGNLKRQK | GERLRLPPWL | KTEIPMGKNY | NKLKNTLRNL | NLHTVCEEAR | CPNIGECWGG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GEYATATATI | MLMGDTCTRG | CRFCSVKTAR | NPPPLDASEP | YNTAKAIAEW | GLDYVVLTSV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DRDDMPDGGA | EHIAKTVSYL | KERNPKILVE | CLTPDFRGDL | KAIEKVALSG | LDVYAHNVET |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VPELQSKVRD | PRANFDQSLR | VLKHAKKVQP | DVISKTSIML | GLGENDEQVY | ATMKALREAD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VDCLTLGQYM | QPTRRHLKVE | EYITPEKFKY | WEKVGNELGF | HYTASGPLVR | SSYKAGEFFL |
| 370 | |||||
| KNLVAKRKTK | DL |