Q5TEU4
PR
Gene name |
NDUFAF5 |
Protein name |
Arginine-hydroxylase NDUFAF5, mitochondrial |
Names |
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5, Putative methyltransferase NDUFAF5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79133 |
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 Q5TEU4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5TEU4-F1 | Predicted | AlphaFoldDB |
314 variants for Q5TEU4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs768566143 RCV001825493 RCV000756415 CA9767563 |
9 | R>G | Mitochondrial complex I deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001279559 CA9767568 CA9767567 rs766441991 |
10 | L>F | Leigh syndrome [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA324682 RCV000200122 RCV002508927 RCV001833145 rs375461797 |
31 | S>F | Leigh syndrome Mitochondrial complex I deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000195674 CA320041 rs369277594 RCV001835721 |
38 | S>R | Mitochondrial complex I deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1980757406 RCV001329313 |
45 | N>K | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA408282334 RCV000990291 rs1600305570 |
49 | R>L | Mitochondrial complex 1 deficiency, nuclear type 16 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001507282 rs531254130 CA358060 RCV000210596 |
52 | K>T | Inborn genetic diseases Mitochondrial complex 1 deficiency, nuclear type 16 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1980770637 RCV001336085 |
59 | A>E | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001276988 CA322012 RCV000197548 RCV000765487 rs146837138 |
60 | A>T | Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9767601 RCV001279561 rs200744738 |
61 | R>W | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000911843 RCV001276990 CA321762 rs147117631 |
64 | E>K | Mitochondrial complex I deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001279564 CA9767657 rs181973913 |
78 | R>Q | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001871571 CA9767656 RCV001279563 RCV003147606 rs761333847 |
78 | R>W | Leigh syndrome Variant assessed as Somatic; 0.0 impact. Mitochondrial complex 1 deficiency, nuclear type 16 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001279565 rs1422440211 CA408282542 |
79 | I>F | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs376456360 RCV001833536 CA9767664 RCV000434609 |
82 | R>H | Mitochondrial complex I deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9767668 RCV001279566 rs755888652 |
84 | Y>C | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555830705 CA408282665 RCV000509003 |
97 | G>D | Leber plus disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001507283 RCV001824717 RCV000255420 CA9767701 RCV001266325 RCV001833296 rs150613320 |
109 | K>N | Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency Mitochondrial complex 1 deficiency, nuclear type 16 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001827034 CA9767759 rs572478240 RCV000945239 |
138 | V>I | Mitochondrial complex I deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000880706 RCV002488872 RCV001828400 rs148341631 CA9767764 |
150 | N>S | Mitochondrial complex I deficiency Mitochondrial complex 1 deficiency, nuclear type 16 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000000601 CA114356 rs267606689 VAR_067956 |
159 | L>F | Mitochondrial complex 1 deficiency, nuclear type 16 MC1DN16 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs145095925 CA9767801 RCV001279570 |
175 | H>R | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001279571 RCV002542930 CA9767804 rs543144225 |
177 | I>V | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9767811 rs200756131 RCV001249209 |
188 | M>V | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002537856 RCV002480914 CA9767826 RCV001279573 rs141758325 |
206 | T>M | Leigh syndrome Mitochondrial complex 1 deficiency, nuclear type 16 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9767830 rs138351379 RCV000732473 RCV002536482 |
214 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000944245 RCV001279574 rs199543540 CA9767833 |
223 | N>H | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001279575 rs371560528 CA9767834 RCV002541712 |
223 | N>S | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001831498 rs118203929 VAR_054119 CA114355 RCV000000600 RCV001376922 |
229 | L>P | Mitochondrial complex I deficiency Mitochondrial complex 1 deficiency, nuclear type 16 MC1DN16 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV001279576 rs1985448121 |
246 | V>F | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000431261 CA9767862 rs757043077 VAR_076864 RCV000412492 RCV000477759 |
250 | G>V | Mitochondrial complex I deficiency Mitochondrial complex 1 deficiency, nuclear type 16 MC1DN16 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP |
|
CA9767865 RCV001276995 RCV000896159 RCV002540144 rs200199681 |
251 | M>T | Mitochondrial complex I deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001555266 CA311399469 RCV003117659 RCV000985087 rs1040187200 |
274 | L>Q | Mitochondrial complex 1 deficiency, nuclear type 16 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs761389904 RCV001275555 RCV002517436 RCV000679869 RCV001507280 CA358016 RCV000210569 |
279 | M>R | Leigh syndrome Mitochondrial complex I deficiency Inborn genetic diseases Mitochondrial complex 1 deficiency, nuclear type 16 Leigh syndrome (ls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs142611230 CA9767954 RCV001279578 RCV002493498 COSM266135 |
324 | A>T | Leigh syndrome Variant assessed as Somatic; 0.0 impact. large_intestine Mitochondrial complex 1 deficiency, nuclear type 16 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs769458895 RCV001279579 RCV002542931 CA9767962 |
342 | K>E | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001329312 RCV000509006 RCV002255148 rs778575439 RCV001089945 |
344 | S>missing | Leber plus disease Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex 1 deficiency, nuclear type 16 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA408282072 rs1186560552 |
2 | L>M | No |
ClinGen gnomAD |
|
|
rs1396426892 CA408282076 |
2 | L>Q | No |
ClinGen TOPMed |
|
|
CA408282077 rs150075486 |
3 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1396833999 CA408282078 |
3 | R>Q | No |
ClinGen TOPMed |
|
|
CA311428327 rs150075486 |
3 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408282083 rs776352728 |
4 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs776352728 CA9767556 |
4 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9767555 rs770433586 |
4 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770433586 CA311428333 |
4 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745331100 CA9767557 |
5 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390169030 CA408282087 |
5 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1316791653 CA408282092 |
6 | G>A | No |
ClinGen gnomAD |
|
|
CA9767558 rs369614601 |
6 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9767559 rs775544697 |
7 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9767560 rs763023951 |
8 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408282105 rs763023951 |
8 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311428356 rs1045938367 |
8 | W>L | No |
ClinGen gnomAD |
|
|
CA408282102 rs1045938367 |
8 | W>S | No |
ClinGen gnomAD |
|
|
rs768566143 CA9767561 |
9 | R>C | No |
ClinGen ExAC TOPMed |
|
|
CA408282106 rs1198797379 |
9 | R>H | No |
ClinGen TOPMed |
|
|
CA408282107 rs1198797379 |
9 | R>L | No |
ClinGen TOPMed |
|
|
CA9767564 rs768566143 |
9 | R>S | No |
ClinGen ExAC TOPMed |
|
|
CA408282110 rs1466271703 |
10 | L>* | No |
ClinGen gnomAD |
|
|
rs761678176 CA9767566 |
10 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs759516479 CA9767569 |
11 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs765344076 CA9767570 |
12 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 13 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9767571 rs542653545 |
14 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562335414 CA9767573 |
14 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562335414 CA9767572 |
14 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA323851 rs576780935 RCV003052890 |
15 | W>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs780657952 CA9767576 |
15 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA9767577 rs769397731 |
16 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600304889 CA408282162 |
19 | V>G | No |
ClinGen Ensembl |
|
|
CA9767579 rs749220687 |
21 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA408282172 rs1326168631 |
21 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 22 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408282174 rs1437092412 |
22 | E>K | No |
ClinGen TOPMed |
|
|
CA408282176 rs1437092412 |
22 | E>Q | No |
ClinGen TOPMed |
|
|
CA408282185 rs1343992255 |
23 | N>T | No |
ClinGen gnomAD |
|
|
rs768652049 CA9767580 |
24 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA311428411 rs554134618 |
25 | G>R | No |
ClinGen Ensembl |
|
|
rs554134618 CA408282195 |
25 | G>S | No |
ClinGen Ensembl |
|
|
CA9767581 rs774347863 |
26 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408282202 rs1331491109 |
26 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761472252 CA9767582 |
27 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 30 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000428553 CA9767583 rs771954824 |
30 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs771954824 CA311428422 |
30 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767585 rs375461797 |
31 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182642576 CA408282253 |
35 | P>S | No |
ClinGen gnomAD |
|
|
CA9767586 rs752715492 |
36 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs138556430 CA311428435 |
37 | G>D | No |
ClinGen ESP TOPMed |
|
|
CA9767588 rs764546077 |
38 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA408282271 rs1459029364 |
38 | S>N | No |
ClinGen gnomAD |
|
|
CA9767590 rs781649157 |
39 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369539700 CA311428455 |
41 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs755887764 CA408282284 |
41 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755887764 CA9767592 |
41 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779861709 CA9767593 |
42 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311428461 rs982575696 |
43 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9767594 rs748737437 |
43 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs372821898 CA9767597 |
46 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 49 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377078447 CA311428475 |
49 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 51 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408282361 rs1600305605 |
53 | R>K | No |
ClinGen Ensembl |
|
|
CA408282382 rs1384141465 |
56 | K>Q | No |
ClinGen gnomAD |
|
|
CA311428488 rs867154243 |
57 | N>K | No |
ClinGen Ensembl |
|
|
rs773120608 CA9767600 |
58 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA9767603 rs762973692 |
61 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408282426 CA408282425 rs1406152393 |
62 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408282429 rs1313001598 |
63 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs988257843 CA408282438 |
64 | E>D | No |
ClinGen TOPMed |
|
|
CA9767605 rs767759702 |
65 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs750737800 CA9767607 |
69 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA408282478 rs1484026364 |
70 | Y>C | No |
ClinGen gnomAD |
|
|
rs1221749443 CA408282475 |
70 | Y>H | No |
ClinGen Ensembl |
|
|
rs1484026364 CA408282479 |
70 | Y>S | No |
ClinGen gnomAD |
|
|
CA408282484 rs1464986688 |
71 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs566963047 CA9767609 |
71 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 72 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778555543 CA9767612 |
73 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1170201571 CA408282501 |
74 | E>K | No |
ClinGen gnomAD |
|
|
CA408282539 rs761333847 |
78 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759828213 CA9767659 |
80 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9767660 rs764903300 |
80 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs752315751 CA9767661 |
81 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9767663 rs763636027 |
82 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408282565 rs540882370 |
83 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9767665 rs540882370 |
83 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1291471747 CA408282570 |
84 | Y>H | No |
ClinGen gnomAD |
|
|
rs1206839711 CA408282596 |
87 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408282595 rs1206839711 |
87 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1268834780 CA408282591 |
87 | P>S | No |
ClinGen TOPMed |
|
|
rs868574799 CA311429254 |
88 | R>K | No |
ClinGen Ensembl |
|
|
CA9767691 rs577302957 |
89 | N>I | No |
ClinGen ExAC TOPMed |
|
|
CA311429633 rs577302957 |
89 | N>S | No |
ClinGen ExAC TOPMed |
|
|
CA9767692 rs577302957 |
89 | N>T | No |
ClinGen ExAC TOPMed |
|
|
rs1460070669 CA408282620 |
90 | F>I | No |
ClinGen gnomAD |
|
|
CA9767694 rs747045458 |
91 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747045458 CA408282629 |
91 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9767693 rs141840218 |
91 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408282634 rs1418611191 |
92 | L>P | No |
ClinGen gnomAD |
|
|
CA408282638 rs1414659557 |
93 | A>S | No |
ClinGen gnomAD |
|
|
rs781759926 CA9767696 |
95 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321911 rs746405080 RCV000197446 |
97 | G>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA408282680 rs1225710153 |
99 | G>V | No |
ClinGen TOPMed |
|
|
CA9767697 rs768781596 |
103 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408282705 rs1327531746 |
103 | I>T | No |
ClinGen gnomAD |
|
|
rs768781596 CA408282702 |
103 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749674610 CA408282711 |
104 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368314960 CA311429649 |
104 | A>T | No |
ClinGen ESP |
|
|
rs749674610 CA9767699 |
104 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1339197184 CA408282723 |
106 | Y>C | No |
ClinGen gnomAD |
|
|
CA9767700 rs768226843 |
108 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA408282747 rs1265268040 |
109 | K>M | No |
ClinGen gnomAD |
|
|
CA408268123 rs1413087869 |
110 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408268128 rs1413087869 |
110 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA408268165 rs1384892429 |
111 | T>I | No |
ClinGen gnomAD |
|
|
rs1384892429 CA408268154 |
111 | T>N | No |
ClinGen gnomAD |
|
|
rs760239102 CA9767723 |
112 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA311380124 rs867225452 |
114 | K>M | No |
ClinGen gnomAD |
|
|
rs867225452 CA408268276 |
114 | K>R | No |
ClinGen gnomAD |
|
|
CA408268326 rs1417575738 |
116 | F>L | No |
ClinGen TOPMed |
|
|
rs766188304 CA408268352 |
116 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA311380132 rs896957692 |
116 | F>Y | No |
ClinGen TOPMed |
|
|
rs759387048 CA9767726 |
119 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767725 rs776653579 |
119 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1337560321 CA408268459 |
120 | I>V | No |
ClinGen gnomAD |
|
|
rs1362733212 CA408268502 |
121 | A>T | No |
ClinGen gnomAD |
|
|
CA408268551 rs1236987632 |
122 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9767727 rs765167824 |
123 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1360059887 CA408268596 |
125 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA408268605 rs1447590061 |
125 | L>S | No |
ClinGen TOPMed |
|
|
CA408268754 rs755535789 |
126 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767753 rs755535789 |
126 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408268767 rs1173723072 |
127 | N>S | No |
ClinGen Ensembl |
|
|
rs1454673052 CA408268776 |
128 | S>F | No |
ClinGen gnomAD |
|
|
CA9767754 rs779399246 |
129 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA408268800 rs1381956675 |
132 | E>G | No |
ClinGen gnomAD |
|
|
rs1568754997 CA408268806 |
133 | I>V | No |
ClinGen Ensembl |
|
|
CA408268816 rs1166494693 |
134 | P>L | No |
ClinGen TOPMed |
|
|
CA9767755 rs202018236 |
135 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9767756 rs758813245 |
135 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992683911 CA311381143 |
136 | V>F | No |
ClinGen Ensembl |
|
|
rs780910667 CA9767760 |
139 | L>S | No |
ClinGen ExAC |
|
|
rs373962879 CA9767761 |
140 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1600337696 CA408268861 |
142 | E>A | No |
ClinGen Ensembl |
|
|
rs1187663896 CA408268889 |
146 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1555832935 RCV000592393 CA408268895 |
147 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA408268923 rs146324749 |
150 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1341532829 CA408268927 |
151 | T>S | No |
ClinGen TOPMed |
|
|
CA408268967 rs1344179346 |
157 | S>N | No |
ClinGen TOPMed |
|
|
CA408268980 rs1470961527 |
158 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408270191 rs1568760224 |
163 | W>* | No |
ClinGen Ensembl |
|
|
CA9767783 rs774258174 |
164 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9767784 rs747908620 |
165 | N>S | No |
ClinGen ExAC |
|
|
CA9767785 rs771103624 |
167 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs894455128 CA311384230 |
168 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs144076410 CA311384245 |
169 | R>G | No |
ClinGen ESP gnomAD |
|
|
CA311384247 rs995639587 |
171 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 173 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 175 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9767803 rs778718739 |
176 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9767802 rs754885002 |
176 | Y>H | No |
ClinGen ExAC |
|
|
rs776803674 CA9767806 |
180 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408270552 rs1316505418 |
181 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408270555 rs1316505418 |
181 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1029985306 CA311386888 |
182 | G>R | No |
ClinGen Ensembl |
|
|
CA408270611 rs374945134 |
184 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9767809 rs367645690 |
186 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9767808 rs367645690 |
186 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762949894 CA9767810 |
187 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356028473 CA408270666 |
188 | M>T | No |
ClinGen TOPMed |
|
|
rs774740189 CA9767812 |
189 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408270696 rs1482369362 |
190 | G>R | No |
ClinGen Ensembl |
|
|
rs762241591 CA9767813 RCV000585518 |
191 | G>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs768030902 CA9767814 |
192 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA408270719 rs1380385366 |
192 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
RCV000485687 rs1555834773 |
195 | Y>missing | No |
ClinVar dbSNP |
|
|
rs766140910 CA9767816 |
195 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754470952 CA9767817 |
198 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408270760 rs1265153312 |
198 | R>W | No |
ClinGen gnomAD |
|
|
CA311387010 rs201512731 |
199 | C>F | No |
ClinGen gnomAD |
|
|
CA9767819 rs374576589 |
200 | S>P | No |
ClinGen ESP TOPMed |
|
|
CA9767821 rs368690277 |
202 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408270784 rs758185308 |
202 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767822 rs758185308 |
202 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767823 rs146962778 |
204 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372027146 CA9767825 |
206 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9767827 rs141758325 |
206 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1254368076 CA408270850 |
207 | E>D | No |
ClinGen gnomAD |
|
|
rs1224939756 CA408270854 |
208 | R>G | No |
ClinGen TOPMed |
|
|
CA408270859 rs1467045628 |
208 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 211 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9767829 rs147075338 |
212 | F>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1433339359 CA408270966 |
216 | I>V | No |
ClinGen gnomAD |
|
|
rs1368349739 CA408271008 |
218 | P>A | No |
ClinGen TOPMed |
|
|
rs1324615273 CA408271038 |
221 | A>P | No |
ClinGen TOPMed |
|
|
CA408271044 rs1224418048 COSM1410432 |
221 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA311387103 rs199543540 |
223 | N>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149637004 COSM722629 CA311387109 |
224 | D>N | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA |
|
CA408271098 rs1448459190 |
227 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA408271095 rs1448459190 |
227 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA408271128 rs1373953011 |
230 | G>R | No |
ClinGen TOPMed |
|
|
rs764720865 CA9767836 |
231 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA9767837 rs752667747 |
232 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA408271188 rs1201184516 |
233 | G>V | No |
ClinGen gnomAD |
|
|
CA9767838 rs758277212 |
234 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408271218 rs1172442237 |
236 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs751318172 CA9767840 |
239 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767860 rs763973258 |
245 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs751543317 CA9767861 |
248 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs756119794 CA311393356 |
249 | P>L | No |
ClinGen gnomAD |
|
|
rs755097467 RCV000266952 CA9767866 |
259 | Q>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1568786761 CA408273438 |
261 | M>R | No |
ClinGen Ensembl |
|
|
rs1568786761 CA408273436 |
261 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 262 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408273461 rs1255731016 |
262 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs747127832 CA9767891 |
263 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489467474 CA408273492 |
264 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9767892 rs757642211 |
266 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1009255448 CA311399450 |
267 | A>G | No |
ClinGen Ensembl |
|
|
rs886349078 CA311399445 |
267 | A>S | No |
ClinGen gnomAD |
|
|
rs781739291 CA9767893 |
269 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 270 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408273636 rs1600395924 |
272 | A>V | No |
ClinGen Ensembl |
|
|
rs746174480 CA9767894 |
274 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9767895 rs148305100 |
276 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9767896 rs148305100 |
276 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA311399494 rs765428922 |
276 | R>Q | No |
ClinGen Ensembl |
|
|
CA9767899 rs773789999 |
279 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs201262678 CA9767900 |
283 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600396099 CA408273797 |
285 | V>G | No |
ClinGen Ensembl |
|
|
rs1600396118 CA408273803 |
286 | Y>D | No |
ClinGen Ensembl |
|
|
rs534613209 CA9767924 |
288 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767699787 CA9767926 |
289 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs767699787 CA9767925 |
289 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1478637063 CA408273924 |
289 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 291 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs892875028 CA311399868 |
293 | E>V | No |
ClinGen Ensembl |
|
|
rs1225051651 CA408274062 |
294 | D>G | No |
ClinGen TOPMed |
|
|
CA408274128 rs1398984739 |
297 | V>I | No |
ClinGen gnomAD |
|
|
rs756552629 CA9767927 |
298 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA408274194 rs1483019821 |
300 | T>A | No |
ClinGen gnomAD |
|
|
CA408274294 CA408274292 rs1361202952 |
302 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs754159612 CA9767930 |
304 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1341341802 CA408274404 |
306 | M>V | No |
ClinGen gnomAD |
|
|
CA9767931 rs755356624 |
307 | I>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 308 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA311399935 rs868205864 |
309 | W>* | No |
ClinGen gnomAD |
|
|
rs15415 CA311399947 |
311 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408274612 rs1445940024 |
311 | Y>H | No |
ClinGen Ensembl |
|
|
CA9767933 rs747874922 COSM1713239 |
312 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 313 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461850666 CA408274738 |
314 | S>P | No |
ClinGen TOPMed |
|
|
rs866444725 CA311400186 |
316 | A>E | No |
ClinGen Ensembl |
|
|
rs1027851936 CA311400220 |
317 | R>G | No |
ClinGen Ensembl |
|
|
rs1279237370 CA408274940 |
318 | P>L | No |
ClinGen TOPMed |
|
|
CA408274930 rs1355628802 |
318 | P>S | No |
ClinGen gnomAD |
|
|
CA9767951 rs140825882 |
322 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408275017 rs140825882 |
322 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9767952 rs139572556 |
323 | S>F | No |
ClinGen ESP ExAC |
|
|
CA311400238 rs907837483 |
326 | V>A | No |
ClinGen Ensembl |
|
|
CA311400245 rs944709426 |
328 | F>S | No |
ClinGen TOPMed |
|
|
rs1477308001 CA408275196 |
331 | L>R | No |
ClinGen gnomAD |
|
|
rs746471101 CA9767957 |
336 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
VAR_035376 rs6042368 CA311400275 |
337 | L>F | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA408275261 rs6042368 |
337 | L>V | No |
ClinGen TOPMed |
|
|
CA408275303 rs1568788253 |
339 | P>S | No |
ClinGen Ensembl |
|
|
rs150559783 COSM1494984 CA9767959 |
340 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9767958 rs756878123 |
340 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1325584823 CA408275342 |
341 | G>A | No |
ClinGen gnomAD |
|
|
CA408275446 rs1600397979 |
344 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 344 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355518377 CA634802213 |
346 | Q>del | No |
ClinGen gnomAD |
1 associated diseases with Q5TEU4
[MIM: 618238]: Mitochondrial complex I deficiency, nuclear type 16 (MC1DN16)
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN16 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:18940309, ECO:0000269|PubMed:19542079, ECO:0000269|PubMed:21607760}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN16 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:18940309, ECO:0000269|PubMed:19542079, ECO:0000269|PubMed:21607760}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q5TEU4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Mrp, conserved site | 183 - 199 | IPR000808 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extrinsic component of mitochondrial inner membrane | The component of mitochondrial inner membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| methyltransferase activity | Catalysis of the transfer of a methyl group to an acceptor molecule. |
| oxidoreductase activity | Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| methylation | The process in which a methyl group is covalently attached to a molecule. |
| mitochondrial respiratory chain complex I assembly | The aggregation, arrangement and bonding together of a set of components to form mitochondrial respiratory chain complex I. |
| peptidyl-arginine hydroxylation | The hydroxylation of peptidyl-arginine to form peptidyl-hydroxyarginine. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRPAGLWRL | CRRPWAARVP | AENLGRREVT | SGVSPRGSTS | PRTLNIFDRD | LKRKQKNWAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RQPEPTKFDY | LKEEVGSRIA | DRVYDIPRNF | PLALDLGCGR | GYIAQYLNKE | TIGKFFQADI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AENALKNSSE | TEIPTVSVLA | DEEFLPFKEN | TFDLVVSSLS | LHWVNDLPRA | LEQIHYILKP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DGVFIGAMFG | GDTLYELRCS | LQLAETEREG | GFSPHISPFT | AVNDLGHLLG | RAGFNTLTVD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TDEIQVNYPG | MFELMEDLQG | MGESNCAWNR | KALLHRDTML | AAAAVYREMY | RNEDGSVPAT |
| 310 | 320 | 330 | 340 | ||
| YQIYYMIGWK | YHESQARPAE | RGSATVSFGE | LGKINNLMPP | GKKSQ |