O00217
PR
Gene name |
NDUFS8 |
Protein name |
NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial |
Names |
Complex I-23kD, CI-23kD, NADH-ubiquinone oxidoreductase 23 kDa subunit, TYKY subunit |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4728 |
EC number |
7.1.1.2: Hydron translocation or charge separation linked to oxidoreductase reactions |
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
5 structures for O00217
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5XTB | EM | 340 A | B | 35-210 | PDB |
| 5XTD | EM | 370 A | B | 35-210 | PDB |
| 5XTH | EM | 390 A | B | 35-210 | PDB |
| 5XTI | EM | 1740 A | B/BB | 35-210 | PDB |
| AF-O00217-F1 | Predicted | AlphaFoldDB |
217 variants for O00217
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001108403 RCV000726015 RCV002517245 rs150278938 COSM1317262 RCV000765008 CA324025 |
2 | R>C | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 haematopoietic_and_lymphoid_tissue Inborn genetic diseases Leigh syndrome (ls) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6146318 rs139334907 RCV001103230 RCV001103231 |
2 | R>H | Leigh syndrome Variant assessed as Somatic; 0.0 impact. Mitochondrial complex I deficiency, nuclear type 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6146321 rs142658611 RCV001103233 RCV001103232 RCV000923575 |
7 | P>T | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs750062334 VAR_083603 CA6146331 |
18 | R>C | MC1DN2; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002547333 RCV001335040 rs201017561 |
18 | R>L | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA321211 RCV000389629 rs369602258 RCV000276295 RCV001731428 |
22 | P>S | Leigh syndrome Mitochondrial complex I deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000317408 rs764943259 CA6146386 RCV000372098 |
45 | E>K | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397514618 RCV000033056 CA130615 VAR_081440 |
63 | E>Q | Mitochondrial complex 1 deficiency, nuclear type 2 MC1DN2; decrease in enzyme activity; impaired assembly of complex I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA130611 RCV000523226 RCV000033054 rs146766138 VAR_081441 |
77 | R>W | Mitochondrial complex 1 deficiency, nuclear type 2 MC1DN2; unknown pathological significance; decrease in enzyme activity; impaired assembly of complex I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000762861 CA118853 RCV000007941 rs28939679 VAR_019538 RCV000442702 |
79 | P>L | Leigh syndrome Variant assessed as Somatic; 0.0 impact. Mitochondrial complex 1 deficiency, nuclear type 2 MC1DN2 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
VAR_081442 RCV000007943 rs121912639 CA118855 |
85 | P>L | Mitochondrial complex 1 deficiency, nuclear type 2 MC1DN2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA6146434 RCV001111482 RCV001111481 rs746246241 |
90 | P>L | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6146437 RCV000307867 rs748754134 RCV000344135 RCV000490220 |
100 | A>V | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs121912638 RCV000007942 CA118854 RCV000426335 VAR_019539 |
102 | R>H | Mitochondrial complex 1 deficiency, nuclear type 2 MC1DN2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000200148 RCV001853220 rs764276946 CA277529 |
115 | K>E | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001174541 rs371659063 |
128 | I>M | Mitochondrial complex 1 deficiency, nuclear type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA118857 VAR_081443 rs111033588 RCV000007944 RCV002512884 |
138 | R>H | Mitochondrial complex 1 deficiency, nuclear type 2 MC1DN2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA381569169 CA381569172 rs1267554976 RCV000578254 RCV001815416 |
147 | M>I | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs143337739 RCV001027993 RCV000514571 CA224194909 |
154 | G>S | Mitochondrial complex 1 deficiency, nuclear type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000033055 rs397514617 VAR_081444 CA130613 |
159 | A>D | Mitochondrial complex 1 deficiency, nuclear type 2 MC1DN2; unknown pathological significance; decrease in enzyme activity; impaired assembly of complex I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA381569408 rs1277027467 RCV000625885 |
162 | V>M | Leigh syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA381570056 RCV001114883 RCV001114884 rs1371377502 |
192 | G>R | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000321000 RCV000380344 rs578145610 CA6146577 RCV002520747 |
200 | A>T | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1180908275 CA381598492 |
3 | C>Y | No |
ClinGen TOPMed |
|
|
rs754342395 CA6146319 |
6 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381598544 rs1207997096 |
8 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759908445 CA6146322 |
8 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA381598560 rs1431452164 |
9 | L>P | No |
ClinGen gnomAD |
|
|
CA6146323 rs765507113 |
10 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA381598576 rs763234032 |
11 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381598574 rs763234032 |
11 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM690326 CA6146325 rs763234032 |
11 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201990988 CA6146324 |
11 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756728028 CA6146329 |
15 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6146330 rs780746854 |
15 | Q>R | No |
ClinGen ExAC |
|
|
CA6146332 rs201017561 |
18 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1007815450 CA224240638 |
20 | G>R | No |
ClinGen Ensembl |
|
|
CA6146346 rs369602258 |
22 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs865986879 CA224240745 |
22 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381598756 rs1425889711 |
24 | G>D | No |
ClinGen gnomAD |
|
|
rs147455935 CA6146349 |
25 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs561492258 CA6146348 |
25 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6146351 rs779201630 |
26 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224240752 rs267603145 |
27 | L>F | No |
ClinGen Ensembl |
|
|
rs748087950 CA6146353 |
29 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6146354 rs139818945 |
33 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381598867 rs1317239431 |
33 | A>V | No |
ClinGen TOPMed |
|
|
rs777858020 CA6146355 |
34 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777858020 CA381598876 |
34 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390582150 CA381598887 |
35 | T>I | No |
ClinGen TOPMed |
|
|
CA381598879 rs1590789136 |
35 | T>P | No |
ClinGen Ensembl |
|
|
rs1394107710 CA381598896 |
36 | Y>C | No |
ClinGen gnomAD |
|
| rs1006734781 | 37 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224241247 rs1006734781 |
37 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1266745896 CA381598979 |
38 | Y>C | No |
ClinGen gnomAD |
|
|
CA381599011 rs1487199268 |
40 | N>K | No |
ClinGen gnomAD |
|
|
CA381599001 rs1322789293 |
40 | N>Y | No |
ClinGen TOPMed |
|
|
rs149590243 CA6146382 |
41 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149590243 CA381599015 |
41 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262367971 CA381599038 |
42 | Q>H | No |
ClinGen gnomAD |
|
|
CA6146383 rs765903654 |
43 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA381599063 rs1377416930 |
44 | P>R | No |
ClinGen gnomAD |
|
|
CA381599060 rs1191242637 |
44 | P>S | No |
ClinGen gnomAD |
|
|
rs752421550 CA6146387 |
45 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs11556013 CA381599098 |
47 | D>N | No |
ClinGen TOPMed |
|
|
CA224241293 rs11556013 |
47 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 48 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381599129 rs1351729966 |
49 | K>E | No |
ClinGen gnomAD |
|
|
rs1025055587 CA224241309 |
49 | K>M | No |
ClinGen gnomAD |
|
|
CA224241310 rs969886129 |
53 | D>E | No |
ClinGen gnomAD |
|
|
CA6146389 rs764045667 |
54 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6146388 rs758247003 |
54 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 55 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376540665 CA6146391 |
57 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381599223 rs376540665 |
57 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000437809 rs370053943 CA6146392 RCV002524834 |
57 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA679525399 rs1190074234 |
58 | T>S | No |
ClinGen TOPMed |
|
|
CA6146394 rs372664341 |
60 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6146395 rs779081856 |
61 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA381599274 rs779081856 |
61 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1286021407 CA381599283 |
62 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1203983861 CA381599306 |
64 | L>V | No |
ClinGen TOPMed |
|
|
rs1214343024 CA381599336 |
66 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763861914 CA224241374 |
66 | R>Q | No |
ClinGen gnomAD |
|
|
rs1429816803 CA381599423 |
67 | G>V | No |
ClinGen TOPMed |
|
|
CA381599485 rs1336391030 |
71 | T>N | No |
ClinGen gnomAD |
|
|
CA6146425 rs761486844 |
72 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 73 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767382983 CA6146426 |
74 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1590789654 CA381599533 |
74 | Y>S | No |
ClinGen Ensembl |
|
|
rs1467421684 CA381599564 |
76 | F>V | No |
ClinGen TOPMed |
|
|
CA224241563 rs146766138 |
77 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193398432 CA381599584 |
77 | R>Q | No |
ClinGen gnomAD |
|
|
rs1469630388 CA381599605 |
78 | E>D | No |
ClinGen gnomAD |
|
|
rs766320593 CA6146428 |
78 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6146431 rs751858767 |
83 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1273033619 CA381599795 |
89 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196982492 CA381599844 |
92 | S>R | No |
ClinGen gnomAD |
|
|
CA381599850 rs1272429758 |
93 | P>T | No |
ClinGen gnomAD |
|
|
rs998549961 CA224241627 |
94 | R>H | No |
ClinGen gnomAD |
|
|
rs998549961 CA381599872 |
94 | R>L | No |
ClinGen gnomAD |
|
|
CA6146436 rs780737143 |
96 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1031240590 CA224241639 |
96 | R>H | No |
ClinGen Ensembl |
|
|
rs1245514846 CA381599923 |
97 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1131691492 CA381599929 RCV000492994 |
98 | E>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA381599990 rs1480357210 |
100 | A>T | No |
ClinGen gnomAD |
|
|
rs1409953943 CA381600021 |
102 | R>C | No |
ClinGen TOPMed |
|
|
CA224241657 rs867723941 |
103 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs747899493 CA6146439 |
105 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs863224114 RCV000195877 CA320261 |
105 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1402650264 CA381600088 |
106 | S>F | No |
ClinGen TOPMed |
|
|
CA381600090 rs1400523462 |
107 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs772936986 CA6146441 |
107 | G>V | No |
ClinGen ExAC |
|
|
CA6146442 rs760471636 |
108 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 109 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1002714490 CA224241665 |
110 | R>C | No |
ClinGen TOPMed |
|
|
CA224241671 rs1030352567 |
110 | R>H | No |
ClinGen TOPMed |
|
|
rs1338114217 CA381600144 |
111 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1008250548 CA224241687 |
112 | I>M | No |
ClinGen TOPMed |
|
|
rs776572767 CA6146444 |
113 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6146446 rs751728502 |
116 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757441819 CA6146448 |
117 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA6146449 rs750777351 |
118 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6146450 rs756569292 |
119 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381567425 rs1192877370 |
119 | A>V | No |
ClinGen gnomAD |
|
|
rs1269363023 CA381567439 |
120 | I>M | No |
ClinGen TOPMed |
|
|
rs749849517 CA6146452 |
120 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381567449 rs754438613 |
121 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1225834110 CA381567456 |
122 | P>A | No |
ClinGen Ensembl |
|
|
CA381567462 rs1384072938 |
122 | P>L | No |
ClinGen gnomAD |
|
|
CA381567475 rs372851104 |
123 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6146455 rs372851104 |
123 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771691461 CA6146456 |
124 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1267270290 CA381568646 |
126 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6146512 rs1554992183 |
127 | T>I | No |
ClinGen Ensembl |
|
|
rs1590791864 CA381568676 |
127 | T>P | No |
ClinGen Ensembl |
|
|
rs1474187064 CA381568701 |
128 | I>F | No |
ClinGen gnomAD |
|
|
rs780872768 CA6146516 COSM1475826 |
129 | E>K | Variant assessed as Somatic; 4.709e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA381568747 rs750079497 |
130 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6146517 rs750079497 |
130 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA224194810 rs150120620 |
131 | E>* | No |
ClinGen ESP TOPMed |
|
|
CA6146518 rs755933479 |
131 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6146519 rs779770634 |
132 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400393190 CA381568795 |
132 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1400393190 CA381568799 |
132 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779770634 CA381568791 |
132 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381568825 CA381568829 rs1389237311 |
133 | R>S | No |
ClinGen TOPMed |
|
|
CA381568851 rs1165448240 |
134 | A>D | No |
ClinGen TOPMed |
|
|
rs1328480324 CA381568898 |
136 | G>D | No |
ClinGen gnomAD |
|
|
CA381568923 rs1320612777 |
137 | S>T | No |
ClinGen gnomAD |
|
|
rs201484242 CA381568940 |
138 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201484242 CA6146521 |
138 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6146523 rs770965378 |
139 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6146522 rs377430321 |
139 | R>W | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA381569006 rs1217820452 |
141 | T>P | No |
ClinGen gnomAD |
|
|
rs1010703425 CA224194861 |
142 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6146526 rs770184969 |
142 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs863224115 RCV000197784 CA322246 |
143 | Y>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA381569064 rs1181144656 |
144 | D>N | No |
ClinGen gnomAD |
|
|
CA6146530 rs370808933 |
145 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6146533 COSM931175 RCV000493719 rs750075208 |
146 | D>N | endometrium Variant assessed as Somatic; 4.651e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1229605855 CA381569147 CA381569152 |
147 | M>L | No |
ClinGen gnomAD |
|
|
rs1169393051 CA381569220 |
150 | C>Y | No |
ClinGen TOPMed |
|
|
CA381569233 rs1399223960 |
151 | I>L | No |
ClinGen gnomAD |
|
|
CA381569263 rs1224031819 |
152 | Y>F | No |
ClinGen gnomAD |
|
|
CA381569280 rs1383749533 |
153 | C>R | No |
ClinGen gnomAD |
|
|
rs1382770693 CA381569328 |
155 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381569320 rs1265062682 |
155 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1241496932 CA381569334 |
156 | C>R | No |
ClinGen gnomAD |
|
|
CA381569338 rs1281679691 |
156 | C>Y | No |
ClinGen gnomAD |
|
|
rs1237450188 CA381569369 |
159 | A>S | No |
ClinGen TOPMed |
|
|
CA381569396 rs754843709 |
161 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754843709 CA320413 |
161 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6146538 rs748136794 |
163 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381569416 rs1462335227 |
163 | D>N | No |
ClinGen gnomAD |
|
|
CA381569445 rs1352762723 |
165 | I>V | No |
ClinGen gnomAD |
|
|
rs781189991 CA6146540 |
166 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361942354 CA381569465 |
167 | E>K | No |
ClinGen gnomAD |
|
|
CA381569467 rs1361942354 |
167 | E>Q | No |
ClinGen gnomAD |
|
|
CA6146558 rs147344724 |
168 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6146559 rs147344724 |
168 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381569534 rs1391317360 |
169 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1446600499 CA381569541 |
170 | N>H | No |
ClinGen TOPMed |
|
|
rs1304174758 CA381569549 |
170 | N>T | No |
ClinGen gnomAD |
|
|
CA6146561 rs780213985 |
173 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA381569636 rs1182642557 |
174 | S>F | No |
ClinGen gnomAD |
|
|
CA381569658 rs1282276522 |
175 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA381569673 rs1359738110 |
176 | E>V | No |
ClinGen TOPMed |
|
|
rs749575268 CA6146562 |
179 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs945649473 CA224195086 |
180 | E>G | No |
ClinGen TOPMed |
|
|
CA381569775 rs1590792132 |
182 | L>M | No |
ClinGen Ensembl |
|
|
rs1565147872 CA381569840 |
184 | N>I | No |
ClinGen Ensembl |
|
|
rs535357407 CA6146566 |
185 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1181390724 CA381569921 |
187 | K>T | No |
ClinGen TOPMed |
|
|
CA6146567 rs748548264 |
188 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1565147887 CA381569971 |
189 | L>F | No |
ClinGen Ensembl |
|
|
rs369364877 CA6146570 |
191 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6146571 rs770606328 |
193 | D>N | No |
ClinGen ExAC |
|
|
rs1461966928 CA381570196 |
196 | E>D | No |
ClinGen gnomAD |
|
|
CA6146573 rs759323614 |
198 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs894226009 CA224195149 |
198 | E>G | No |
ClinGen TOPMed |
|
|
rs1367957130 CA381570238 |
198 | E>K | No |
ClinGen gnomAD |
|
|
rs1804688 CA6146576 |
199 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224195245 rs751553766 |
201 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751553766 CA6146579 |
201 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381570357 rs1246007371 |
202 | N>S | No |
ClinGen gnomAD |
|
|
rs1246007371 CA381570353 |
202 | N>T | No |
ClinGen gnomAD |
|
|
rs1294591628 CA381570390 |
203 | I>M | No |
ClinGen TOPMed |
|
|
CA6146580 rs756139103 |
204 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
RCV000197878 rs780162910 CA322342 |
204 | Q>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1221548607 CA381570410 |
205 | A>S | No |
ClinGen gnomAD |
|
|
CA6146581 rs753927337 |
207 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1339420830 CA381570462 |
208 | L>* | No |
ClinGen TOPMed |
|
|
CA224195296 rs569695304 |
210 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA224195292 rs999803670 |
210 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA381570553 rs1163921381 |
211 | R>R | No |
ClinGen TOPMed |
1 associated diseases with O00217
[MIM: 618222]: Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2)
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. MC1DN2 inheritance is autosomal recessive. {ECO:0000269|PubMed:15159508, ECO:0000269|PubMed:16142472, ECO:0000269|PubMed:22499348, ECO:0000269|PubMed:9837812}. 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. MC1DN2 inheritance is autosomal recessive. {ECO:0000269|PubMed:15159508, ECO:0000269|PubMed:16142472, ECO:0000269|PubMed:22499348, ECO:0000269|PubMed:9837812}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 7.1.1.2 | Hydron translocation or charge separation linked to oxidoreductase reactions |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial 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. |
| mitochondrial respiratory chain complex I | A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. |
| 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. |
| metal ion binding | Binding to a metal ion. |
| NADH dehydrogenase (ubiquinone) activity | Catalysis of the reaction: NADH + ubiquinone + 5 H(+)(in) <=> NAD(+) + ubiquinol + 4 H(+)(out). |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| aerobic respiration | The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor. |
| mitochondrial electron transport, NADH to ubiquinone | The transfer of electrons from NADH to ubiquinone that occurs during oxidative phosphorylation. |
| mitochondrial respiratory chain complex I assembly | The aggregation, arrangement and bonding together of a set of components to form mitochondrial respiratory chain complex I. |
| proton motive force-driven mitochondrial ATP synthesis | The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. |
| 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. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A1E9X8 | ndhI | NAD(P)H-quinone oxidoreductase subunit I, chloroplastic | Sorghum bicolor (Sorghum) (Sorghum vulgare) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRCLTTPMLL | RALAQAARAG | PPGGRSLHSS | AVAATYKYVN | MQDPEMDMKS | VTDRAARTLL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WTELFRGLGM | TLSYLFREPA | TINYPFEKGP | LSPRFRGEHA | LRRYPSGEER | CIACKLCEAI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CPAQAITIEA | EPRADGSRRT | TRYDIDMTKC | IYCGFCQEAC | PVDAIVEGPN | FEFSTETHEE |
| 190 | 200 | ||||
| LLYNKEKLLN | NGDKWEAEIA | ANIQADYLYR |