O75880
PR
Gene name |
SCO1 (SCOD1) |
Protein name |
Protein SCO1 homolog, mitochondrial |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6341 |
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
11 structures for O75880
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1WP0 | X-ray | 280 A | A/B/C | 138-301 | PDB |
| 2GGT | X-ray | 240 A | A/B | 135-298 | PDB |
| 2GQK | NMR | - | A | 132-301 | PDB |
| 2GQL | NMR | - | A | 132-301 | PDB |
| 2GQM | NMR | - | A | 132-301 | PDB |
| 2GT5 | NMR | - | A | 132-301 | PDB |
| 2GT6 | NMR | - | A | 132-301 | PDB |
| 2GVP | NMR | - | A | 132-301 | PDB |
| 2HRF | NMR | - | A | 132-301 | PDB |
| 2HRN | NMR | - | A | 132-301 | PDB |
| AF-O75880-F1 | Predicted | AlphaFoldDB |
300 variants for O75880
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001125557 RCV002556723 rs371521614 RCV001125556 |
1 | M>T | Cytochrome-c oxidase deficiency disease Leigh syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000509368 RCV001857290 CA8393741 RCV001124545 RCV001124546 rs147487151 |
2 | A>E | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61753148 RCV000128008 RCV000224328 RCV000330754 RCV000273401 CA293431 |
6 | L>V | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8393724 RCV001123455 rs770075115 RCV001123454 |
10 | R>L | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001329288 RCV002546311 rs762163897 RCV002493720 CA8393707 |
32 | P>A | Cytochrome-c oxidase deficiency disease Mitochondrial complex 4 deficiency, nuclear type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746265672 RCV001882405 RCV001123450 COSM1287784 RCV001123451 RCV002482234 CA8393701 |
47 | R>Q | Cytochrome-c oxidase deficiency disease Leigh syndrome autonomic_ganglia Mitochondrial complex 4 deficiency, nuclear type 4 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000915611 CA8393698 RCV001127570 rs374849575 |
56 | G>E | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001516492 RCV000128010 RCV000353165 VAR_014537 CA293435 RCV000392206 rs1802083 |
58 | P>S | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs370147170 RCV000399883 CA8393682 RCV000304787 |
75 | P>L | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8393677 RCV000345452 RCV002521091 RCV002504093 RCV000291740 rs757958481 |
87 | P>S | Cytochrome-c oxidase deficiency disease Leigh syndrome Mitochondrial complex 4 deficiency, nuclear type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001536014 rs770131276 RCV000485612 |
88 | S>missing | Mitochondrial complex 4 deficiency, nuclear type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1176555010 RCV001336710 |
89 | K>missing | Cytochrome-c oxidase deficiency disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000262471 RCV002480146 rs539094737 CA8393654 RCV000373676 |
102 | F>V | Cytochrome-c oxidase deficiency disease Leigh syndrome Mitochondrial complex 4 deficiency, nuclear type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000778487 rs1199224400 CA398132045 |
129 | R>* | Variant assessed as Somatic; 0.0 impact. SCO1-Related Disorders [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000106300 COSM1290631 rs587777220 CA150771 |
132 | G>S | Mitochondrial complex 4 deficiency, nuclear type 4 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA324000 rs368098002 RCV002478692 RCV000199457 |
144 | T>A | Mitochondrial complex 4 deficiency, nuclear type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2074698464 RCV001124448 RCV001124447 |
145 | H>Y | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_012109 RCV000006555 rs104894630 RCV001291618 CA118051 |
174 | P>L | Mitochondrial complex 4 deficiency, nuclear type 4 MC4DN4; no effect on synthesis of cytochrome c oxidase subunit II; reduced stability of newly synthesized cytochrome c oxidase subunit II; reduced copper-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001329286 rs369847747 |
210 | K>Q | Cytochrome-c oxidase deficiency disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8393543 COSM975413 RCV000365664 RCV000308760 rs145764824 RCV002521090 |
214 | A>T | Cytochrome-c oxidase deficiency disease Leigh syndrome Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs886052595 RCV002521089 RCV000314682 CA10649489 RCV000407936 |
225 | V>I | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001786364 rs141066877 CA8393503 RCV000400601 RCV000350242 |
230 | T>M | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA398128474 rs1234427803 RCV000509509 |
257 | I>L | Cytochrome-c oxidase deficiency disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA320005 RCV000279936 RCV002485307 RCV000375649 RCV000195639 rs111708860 |
263 | I>V | Cytochrome-c oxidase deficiency disease Leigh syndrome Mitochondrial complex 4 deficiency, nuclear type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001127447 RCV001127446 rs1397651609 |
266 | L>F | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003137923 CA8393457 RCV000324448 RCV002061215 rs139771078 RCV000265637 |
290 | I>V | Cytochrome-c oxidase deficiency disease Leigh syndrome Mitochondrial complex 4 deficiency, nuclear type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8393452 rs775176412 RCV002481797 RCV001000723 RCV001869421 |
294 | M>K | Mitochondrial complex 4 deficiency, nuclear type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770736497 CA8393743 |
2 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8393742 rs147487151 |
2 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377725430 CA287786900 |
3 | M>I | No |
ClinGen gnomAD |
|
|
CA398135557 rs143985423 COSM3387705 |
3 | M>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs143985423 CA8393739 |
3 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398135528 rs1192480021 |
4 | L>P | No |
ClinGen gnomAD |
|
|
CA8393738 rs375241647 |
4 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398135511 rs1290265605 |
5 | V>A | No |
ClinGen TOPMed |
|
|
rs1465969635 CA398135520 |
5 | V>I | No |
ClinGen gnomAD |
|
|
rs777394675 CA8393732 |
6 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA398135480 rs1277248821 |
7 | V>A | No |
ClinGen gnomAD |
|
|
CA398135486 rs1182615990 |
7 | V>L | No |
ClinGen TOPMed |
|
|
CA398135465 rs1567577782 |
8 | P>L | No |
ClinGen Ensembl |
|
|
CA8393730 rs370809239 |
8 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8393728 rs751482122 |
9 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287786877 rs751482122 |
9 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8393729 CA398135462 rs767509851 |
9 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA321564 RCV001853196 RCV000197121 rs751482122 |
9 | G>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA398135454 rs762828371 |
10 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8393726 rs762828371 |
10 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770075115 CA8393725 |
10 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8393723 rs762016565 |
11 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1461123174 CA398135430 |
12 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs747516739 CA8393720 |
12 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8393721 rs747516739 |
12 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287786834 rs867836811 |
13 | R>W | No |
ClinGen gnomAD |
|
|
RCV001722095 CA322816 rs141606021 |
14 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1221424781 CA398135404 |
15 | L>R | No |
ClinGen gnomAD |
|
|
rs777428544 CA8393717 |
17 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA398135392 rs1219962884 |
17 | G>S | No |
ClinGen TOPMed |
|
|
rs755726280 CA8393716 |
18 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1183426435 CA398135375 |
18 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA287786820 rs934296754 |
18 | Q>P | No |
ClinGen Ensembl |
|
|
CA398135366 rs1480589526 |
19 | L>P | No |
ClinGen gnomAD |
|
|
rs755735968 CA321813 RCV000197361 |
21 | R>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs868352614 CA287786819 |
21 | R>L | No |
ClinGen Ensembl |
|
|
RCV001314914 rs780618786 CA8393714 |
22 | F>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs981134620 CA287786814 |
22 | F>S | No |
ClinGen gnomAD |
|
|
rs2074738818 RCV001291619 |
23 | L>missing | No |
ClinVar dbSNP |
|
|
rs1221880587 CA398135314 |
24 | P>L | No |
ClinGen gnomAD |
|
|
rs1331552555 CA398135306 |
25 | R>L | No |
ClinGen gnomAD |
|
|
CA8393712 rs751519483 |
27 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8393709 rs750193116 |
30 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs765585553 CA8393708 |
31 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA398135230 rs1189804087 |
32 | P>L | No |
ClinGen TOPMed |
|
|
CA398135227 rs1458473238 |
33 | A>S | No |
ClinGen gnomAD |
|
|
rs1157920562 CA398135212 |
34 | E>D | No |
ClinGen gnomAD |
|
|
rs776887702 CA8393706 |
34 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs863224197 CA323747 RCV002460978 |
35 | G>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1597511871 CA398135208 |
35 | G>R | No |
ClinGen Ensembl |
|
|
CA398135190 rs1597511862 |
36 | T>I | No |
ClinGen Ensembl |
|
|
rs764134673 CA8393705 |
37 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8393704 rs141758536 |
38 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398135154 rs1462900533 |
40 | L>F | No |
ClinGen TOPMed |
|
|
rs1466422937 CA398135149 |
41 | L>V | No |
ClinGen gnomAD |
|
|
rs1268931466 CA398135125 |
43 | Q>P | No |
ClinGen gnomAD |
|
|
rs1238625533 CA398135112 |
44 | F>L | No |
ClinGen gnomAD |
|
|
rs772523185 CA8393702 |
45 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA398135095 rs1314656079 |
46 | A>T | No |
ClinGen gnomAD |
|
|
rs746265672 CA398135083 |
47 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398135085 rs1228792737 |
47 | R>W | No |
ClinGen gnomAD |
|
|
CA8393700 rs774741261 |
49 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs774741261 CA398135065 |
49 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1388745773 CA398135005 |
54 | A>G | No |
ClinGen gnomAD |
|
|
rs1451216290 CA398134997 |
55 | S>A | No |
ClinGen gnomAD |
|
|
CA8393699 rs771265237 |
55 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 56 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8393697 rs780893519 |
57 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs754450822 CA398134979 |
57 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000308070 rs754450822 CA8393696 |
57 | R>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs780893519 CA398134984 |
57 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA8393694 rs758369586 |
58 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287786718 rs559882623 |
59 | G>D | No |
ClinGen 1000Genomes |
|
|
CA398134955 rs1358469276 |
60 | Y>C | No |
ClinGen gnomAD |
|
|
CA8393692 rs765170058 |
60 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA398134942 rs1479729773 |
61 | C>F | No |
ClinGen TOPMed |
|
|
CA287786705 rs1026418638 |
62 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1461019829 CA398134920 |
63 | G>A | No |
ClinGen TOPMed |
|
|
rs760695308 CA8393688 |
66 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8393689 rs764305964 |
66 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA398134880 rs1369359110 |
67 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs767557634 CA8393686 |
68 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760087568 CA398134849 |
69 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162174436 CA398134841 |
69 | T>I | No |
ClinGen gnomAD |
|
|
rs760087568 CA8393685 |
69 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398134813 rs1432210611 |
71 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA398134798 rs1192631823 |
72 | P>L | No |
ClinGen gnomAD |
|
|
CA398134804 rs1373692285 |
72 | P>S | No |
ClinGen gnomAD |
|
|
rs1426952935 CA398134785 |
74 | P>A | No |
ClinGen gnomAD |
|
|
rs1269652440 CA398134781 |
74 | P>R | No |
ClinGen gnomAD |
|
|
rs1426952935 CA398134783 |
74 | P>S | No |
ClinGen gnomAD |
|
|
rs370147170 CA8393683 |
75 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398134775 rs370147170 |
75 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774827470 CA8393684 |
75 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774827470 CA287786670 |
75 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1048666106 CA287786669 |
76 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1048666106 CA398134768 |
76 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1342846995 CA398134733 |
78 | Q>P | No |
ClinGen gnomAD |
|
|
rs1263778860 CA398134701 |
80 | G>D | No |
ClinGen TOPMed |
|
|
rs768305409 CA398134695 |
81 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA398134687 rs1224695466 |
81 | P>R | No |
ClinGen gnomAD |
|
|
rs768305409 CA8393680 |
81 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1301470340 CA398134640 |
84 | S>A | No |
ClinGen gnomAD |
|
|
rs746531593 CA8393679 |
84 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287786655 rs865983096 |
86 | R>L | No |
ClinGen Ensembl |
|
|
rs1486431564 CA398134620 |
86 | R>S | No |
ClinGen TOPMed |
|
|
CA8393675 rs745856586 |
88 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA398134579 rs1379467499 |
89 | K>E | No |
ClinGen gnomAD |
|
|
rs533399314 CA8393673 |
90 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1427945068 CA398134551 |
90 | P>S | No |
ClinGen TOPMed |
|
|
CA8393672 rs753607085 |
91 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398134535 rs1184148496 |
91 | G>V | No |
ClinGen gnomAD |
|
|
rs753607085 CA287786636 |
91 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287785924 rs1025471971 |
93 | V>A | No |
ClinGen TOPMed |
|
|
rs1057194239 CA287785921 |
94 | S>F | No |
ClinGen gnomAD |
|
|
CA398133664 RCV000722901 rs1215263055 |
95 | W>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA8393657 rs771771549 |
95 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs745306701 CA8393656 |
99 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA398133534 rs1567576844 |
101 | T>I | No |
ClinGen Ensembl |
|
|
CA287785909 rs927138274 |
103 | A>T | No |
ClinGen Ensembl |
|
|
rs1451922661 CA398133492 |
103 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8393653 rs777675643 |
104 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398133451 rs1322755273 |
105 | G>E | No |
ClinGen gnomAD |
|
|
CA287785907 rs11538236 |
107 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA398133404 rs1479735024 |
108 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 110 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8393651 rs755850001 |
111 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs781326717 CA8393649 |
112 | M>K | No |
ClinGen ExAC |
|
|
CA398133277 rs1431292394 |
113 | K>E | No |
ClinGen TOPMed |
|
|
rs142330047 RCV000200737 RCV002517257 CA325314 |
114 | H>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA287785882 rs942654259 |
115 | V>G | No |
ClinGen TOPMed |
|
|
CA321301 rs766825748 RCV002581335 COSM975420 |
115 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8393647 rs766825748 |
115 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398133217 RCV000722302 rs1158150053 |
116 | K>E | No |
ClinGen ClinVar TOPMed dbSNP |
|
| TCGA novel | 117 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763555513 CA8393646 |
117 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs765689194 CA8393644 |
118 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762261772 CA8393643 |
120 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398133148 rs1283991310 |
120 | A>V | No |
ClinGen gnomAD |
|
|
COSM385559 rs934084426 CA287785871 |
121 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA287784831 rs935173329 |
123 | L>* | No |
ClinGen Ensembl |
|
|
rs762304322 CA8393610 |
124 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs773216694 CA8393609 |
125 | K>R | No |
ClinGen ExAC |
|
|
CA398132093 rs1490974644 |
126 | E>Q | No |
ClinGen Ensembl |
|
|
rs559517968 CA8393608 |
127 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8393607 rs199815831 |
127 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559517968 CA398132075 |
127 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541118726 CA8393606 |
129 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1205857807 CA398132000 COSM1324176 |
130 | H>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8393605 rs768416949 |
130 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778406995 CA8393604 |
131 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398131937 rs1324611125 |
134 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1324611125 CA398131935 |
134 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs779491884 CA8393601 |
136 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1375273368 CA398131885 |
136 | L>P | No |
ClinGen gnomAD |
|
|
CA398131877 rs1374744399 |
137 | G>R | No |
ClinGen TOPMed |
|
|
CA8393599 rs201588886 |
139 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398131801 rs1338194978 |
142 | L>P | No |
ClinGen gnomAD |
|
|
rs554965649 CA287784767 |
143 | T>A | No |
ClinGen gnomAD |
|
|
CA8393596 rs765890131 |
146 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000723252 CA398131724 rs533385775 |
148 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA287784764 rs533385775 |
148 | E>Q | No |
ClinGen Ensembl |
|
|
CA8393595 rs762548598 |
149 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8393594 rs764694798 |
149 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1731022 rs764694798 CA8393593 |
149 | R>P | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA287784757 rs758604151 |
153 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA287784753 rs956384399 |
153 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs924913705 CA287784748 |
155 | Y>C | No |
ClinGen TOPMed |
|
|
CA398131599 rs1205723858 |
156 | L>S | No |
ClinGen gnomAD |
|
|
rs1461831034 CA398131582 |
157 | G>C | No |
ClinGen gnomAD |
|
|
COSM975418 CA398131581 rs1262685049 |
157 | G>D | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA8393592 rs761788065 |
158 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318464630 CA398131543 |
159 | W>* | No |
ClinGen gnomAD |
|
|
CA8393591 rs776534247 |
160 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA398131509 rs1597509746 |
162 | I>F | No |
ClinGen Ensembl |
|
|
rs1371173353 CA398131468 |
165 | G>S | No |
ClinGen gnomAD |
|
|
rs1316534906 CA398131369 |
171 | D>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 173 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs951657979 CA287784737 |
175 | E>D | No |
ClinGen Ensembl |
|
|
CA398131299 rs1404745329 |
176 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8393588 rs775792883 |
177 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1597509733 CA398131251 |
180 | M>V | No |
ClinGen Ensembl |
|
|
CA8393586 rs745988428 |
181 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs766454175 RCV000391213 |
184 | V>missing | No |
ClinVar dbSNP |
|
|
COSM975416 rs147039721 CA8393584 |
184 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA398131191 rs1445262825 |
185 | D>G | No |
ClinGen gnomAD |
|
|
CA8393582 rs749880146 |
187 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA398131086 rs1338861432 |
189 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA398131081 rs1305392682 |
190 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA398131070 rs1350268039 |
191 | T>A | No |
ClinGen TOPMed |
|
|
CA8393557 rs750108114 |
191 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 192 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463543294 CA398131052 |
192 | T>I | No |
ClinGen gnomAD |
|
|
CA8393554 rs756770512 |
193 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs764046556 CA8393552 |
194 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA398131027 rs1199964876 |
195 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1431136964 CA398131032 |
195 | D>N | No |
ClinGen gnomAD |
|
|
CA398130998 rs1265107604 |
198 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1265107604 CA398130999 |
198 | P>T | No |
ClinGen gnomAD |
|
|
rs1480651487 CA398130983 |
199 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1480651487 CA398130984 |
199 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 200 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398130956 rs767287247 |
201 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA8393550 rs767287247 |
201 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1319858117 CA398130929 |
204 | D>N | No |
ClinGen gnomAD |
|
|
rs1250543187 CA398130905 |
206 | E>K | No |
ClinGen TOPMed |
|
|
CA8393548 RCV000430617 rs774730754 |
207 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA398130894 rs774730754 |
207 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA8393547 rs369847747 |
210 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763158579 CA8393546 |
211 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA398130850 rs1296165030 |
213 | I>V | No |
ClinGen gnomAD |
|
|
CA398130834 rs1464257306 |
214 | A>V | No |
ClinGen gnomAD |
|
|
rs1000340334 CA287784335 |
215 | N>D | No |
ClinGen TOPMed |
|
|
CA398130805 rs1161362765 |
217 | V>L | No |
ClinGen TOPMed |
|
|
CA287781628 rs936640822 |
219 | E>A | No |
ClinGen Ensembl |
|
|
CA8393541 rs748659754 |
219 | E>K | No |
ClinGen ExAC |
|
|
CA8393506 rs766336102 |
221 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA8393505 rs758261444 |
224 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867071433 CA287781621 |
226 | G>C | No |
ClinGen Ensembl |
|
|
rs1342263841 CA398129501 |
228 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287781612 rs1040572944 |
232 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8393500 rs764045986 |
235 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs970580786 CA287781607 |
236 | Q>E | No |
ClinGen Ensembl |
|
|
rs1200800029 CA398128865 |
237 | V>M | No |
ClinGen gnomAD |
|
|
CA398128828 rs1243548210 |
239 | R>G | No |
ClinGen gnomAD |
|
|
CA624881752 rs1458907470 |
241 | Y>* | No |
ClinGen gnomAD |
|
|
rs1447978731 CA398128782 |
241 | Y>C | No |
ClinGen gnomAD |
|
|
CA8393498 rs775960082 |
242 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA8393497 rs772433722 |
243 | V>L | No |
ClinGen ExAC |
|
|
rs769451925 CA8393494 |
244 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA8393493 rs769451925 |
244 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1227878631 CA398128677 |
245 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8393492 rs747725034 |
246 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA8393491 rs199666193 |
247 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 248 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398128608 rs1193839194 |
249 | P>S | No |
ClinGen TOPMed |
|
|
rs1339625209 CA398128586 |
250 | K>E | No |
ClinGen gnomAD |
|
|
rs1296058092 CA398128578 |
250 | K>R | No |
ClinGen gnomAD |
|
|
rs374059293 CA8393489 |
252 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA398128531 rs1403148350 |
253 | D>G | No |
ClinGen gnomAD |
|
|
rs758281587 CA8393488 |
254 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1234427803 CA398128470 |
257 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs901181812 CA287779434 |
261 | T>P | No |
ClinGen TOPMed |
|
|
rs745757782 CA8393467 |
264 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA398126988 rs1259426676 |
264 | M>V | No |
ClinGen Ensembl |
|
|
CA398126875 rs1256458760 |
267 | I>M | No |
ClinGen gnomAD |
|
|
CA287779426 rs766326821 |
268 | G>R | No |
ClinGen Ensembl |
|
|
rs1300276109 CA398126853 |
269 | P>L | No |
ClinGen gnomAD |
|
|
rs1324042926 CA398126856 |
269 | P>S | No |
ClinGen gnomAD |
|
|
rs754153691 CA8393464 |
270 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398126783 rs1374456020 |
272 | E>G | No |
ClinGen TOPMed |
|
|
CA8393463 rs777918132 |
273 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA287779418 rs911282576 |
274 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1338336854 CA398126656 |
278 | G>D | No |
ClinGen gnomAD |
|
|
rs1373981129 CA398126665 |
278 | G>S | No |
ClinGen gnomAD |
|
|
CA398126651 rs1469956745 |
279 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1567572969 CA398126623 |
280 | N>I | No |
ClinGen Ensembl |
|
|
rs545011507 CA287779414 |
283 | K>E | No |
ClinGen Ensembl |
|
|
rs756211110 CA8393462 |
283 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8393461 rs752737918 |
284 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8393458 rs139771078 |
290 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398126473 rs1185681768 |
290 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs763162996 CA8393456 |
290 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8393455 rs776435437 |
292 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8393454 rs768372424 |
293 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760292725 CA8393453 |
294 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8393451 rs377051747 |
297 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs745872734 CA8393450 |
299 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745872734 CA398126378 |
299 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452927237 CA398126358 |
300 | K>N | No |
ClinGen gnomAD |
|
|
CA8393449 rs774148554 |
302 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with O75880
[MIM: 619048]: Mitochondrial complex IV deficiency, nuclear type 4 (MC4DN4)
An autosomal recessive mitochondrial disorder characterized by hypotonia, encephalopathy, metabolic acidosis, poor feeding, hepatomegaly, and hypertrophic cardiomyopathy in some patients. Death occurs in infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:11013136, ECO:0000269|PubMed:17182746, ECO:0000269|PubMed:17189203, ECO:0000269|PubMed:19336478}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive mitochondrial disorder characterized by hypotonia, encephalopathy, metabolic acidosis, poor feeding, hepatomegaly, and hypertrophic cardiomyopathy in some patients. Death occurs in infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:11013136, ECO:0000269|PubMed:17182746, ECO:0000269|PubMed:17189203, ECO:0000269|PubMed:19336478}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for O75880
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O75880 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of mitochondrial inner membrane | The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| 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. |
| myofibril | The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| copper chaperone activity | Directly binding to and delivering copper ions to a target protein. |
| copper ion binding | Binding to a copper (Cu) ion. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular copper ion homeostasis | Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. |
| mitochondrial cytochrome c oxidase assembly | The aggregation, arrangement and bonding together of a set of components to form respiratory chain complex IV (also known as cytochrome c oxidase) in the mitochondrial inner membrane. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A1A4J8 | SCO1 | Protein SCO1 homolog, mitochondrial | Bos taurus (Bovine) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAMLVLVPGR | VMRPLGGQLW | RFLPRGLEFW | GPAEGTARVL | LRQFCARQAE | AWRASGRPGY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CLGTRPLSTA | RPPPPWSQKG | PGDSTRPSKP | GPVSWKSLAI | TFAIGGALLA | GMKHVKKEKA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKLEKERQRH | IGKPLLGGPF | SLTTHTGERK | TDKDYLGQWL | LIYFGFTHCP | DVCPEELEKM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IQVVDEIDSI | TTLPDLTPLF | ISIDPERDTK | EAIANYVKEF | SPKLVGLTGT | REEVDQVARA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YRVYYSPGPK | DEDEDYIVDH | TIIMYLIGPD | GEFLDYFGQN | KRKGEIAASI | ATHMRPYRKK |
| S |