O43837
PR
Gene name |
IDH3B |
Protein name |
Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial |
Names |
Isocitric dehydrogenase subunit beta, NAD(+)-specific ICDH subunit beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3420 |
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
10 structures for O43837
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6KDE | X-ray | 300 A | B/D | 35-374 | PDB |
| 6KDF | X-ray | 305 A | C/D/F/H/J/L/N/P | 35-374 | PDB |
| 6KDY | X-ray | 302 A | B/D/F/H | 35-374 | PDB |
| 6KE3 | X-ray | 331 A | B/D/F/H | 35-374 | PDB |
| 7CE3 | X-ray | 347 A | D | 35-374 | PDB |
| 8GRB | X-ray | 285 A | C/D/F/H/J/L/N/P | 35-374 | PDB |
| 8GRD | X-ray | 270 A | B | 35-374 | PDB |
| 8GRU | X-ray | 285 A | B/D | 35-374 | PDB |
| 8GS5 | X-ray | 449 A | B/F/J/N | 35-374 | PDB |
| AF-O43837-F1 | Predicted | AlphaFoldDB |
321 variants for O43837
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA310885849 rs760454593 RCV001138119 |
6 | G>R | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA310885791 RCV000732343 rs745313320 RCV002499364 |
12 | R>* | Retinitis pigmentosa 46 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs149148826 RCV002562469 CA9735434 RCV001219061 |
14 | L>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9735422 RCV001244576 rs112208578 RCV001138118 |
25 | G>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886056572 CA10643678 RCV000288605 RCV001338794 |
54 | L>P | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001142861 rs767152068 CA9735372 |
54 | L>V | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9735366 RCV002541840 rs770148916 RCV001297068 |
66 | A>T | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_054851 CA253508 rs137853020 RCV000005841 |
132 | L>P | Retinitis pigmentosa 46 Retinitis pigmentosa 46 (rp46) RP46 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000005840 rs1600169350 |
197 | I>missing | Retinitis pigmentosa 46 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000334005 RCV001228709 rs148250924 CA9735232 RCV003168514 |
208 | K>N | Retinitis pigmentosa Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2086919311 RCV001141016 |
236 | V>L | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239618 rs141344025 CA9735167 RCV002563949 |
271 | N>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000373525 CA9735166 RCV001040488 rs761437016 RCV002523153 |
277 | I>T | Retinitis pigmentosa Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001879933 rs774471320 CA9735163 RCV001255191 |
286 | G>E | Retinitis pigmentosa 46 Retinitis pigmentosa 46 (rp46) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10649474 RCV000263764 rs886056571 |
306 | G>C | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs886056570 CA10643674 RCV000358185 |
306 | G>D | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10643673 rs886056568 RCV000362059 |
354 | K>R | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9734993 RCV000350400 rs8296 VAR_056005 RCV001707664 |
360 | T>A | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9735056 RCV001861162 COSM1025434 RCV000307368 rs145651330 |
361 | R>Q | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002504140 rs781157150 RCV000401029 RCV001234998 |
373 | I>missing | Retinitis pigmentosa 46 Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376112899 CA9735039 RCV001423796 RCV000347016 |
378 | G>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs764873315 CA9735035 RCV001305132 RCV001138026 |
382 | T>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001064375 rs1366785022 |
1 | M>V | No |
ClinVar dbSNP |
|
|
rs1263143772 CA408041357 |
2 | A>G | No |
ClinGen gnomAD |
|
|
VAR_022660 CA310885860 rs3178817 |
3 | A>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA408041340 rs1278679882 |
4 | L>S | No |
ClinGen gnomAD |
|
|
rs1236916368 CA408041328 |
5 | S>N | No |
ClinGen gnomAD |
|
|
rs951416395 CA310885851 CA408041322 |
5 | S>R | No |
ClinGen gnomAD |
|
|
rs760454593 CA408041318 |
6 | G>* | No |
ClinGen gnomAD |
|
|
rs771976179 CA9735473 |
6 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771976179 CA408041316 |
6 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735472 rs771976179 RCV001313350 |
6 | G>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA408041310 rs562939418 |
7 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs562939418 CA9735471 |
7 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA310885830 COSM477942 rs554271438 |
8 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA9735469 rs554271438 |
8 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408041301 rs748985715 |
8 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735468 rs748985715 |
8 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310885831 rs554271438 |
8 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9735465 rs745313320 |
12 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781775926 CA9735464 |
12 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1166223512 COSM3963431 CA408041213 COSM3963430 |
13 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs868437441 CA310885587 |
16 | S>F | No |
ClinGen Ensembl |
|
|
CA9735432 rs775112586 |
17 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775112586 CA408041180 |
17 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759097176 CA9735430 CA408041170 |
18 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408041150 rs1248561664 |
19 | N>K | No |
ClinGen gnomAD |
|
| rs1467491634 | 19 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747812567 RCV000787616 |
20 | P>missing | No |
ClinVar dbSNP |
|
|
rs1296328416 CA408041139 |
20 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1222359351 CA408041145 |
20 | P>S | No |
ClinGen gnomAD |
|
|
rs776363683 CA9735428 |
21 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs200744124 CA9735426 |
23 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200744124 CA9735425 |
23 | W>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772427937 CA9735424 |
24 | R>G | No |
ClinGen ExAC |
|
|
CA9735423 rs748613512 |
24 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs113021673 CA9735421 RCV000756265 |
25 | G>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9735420 rs754065623 |
26 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735418 rs756206784 |
27 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574960016 CA9735417 |
28 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs758263657 CA9735415 |
28 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758263657 CA9735416 |
28 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs574960016 CA408040656 |
28 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs764953601 CA9735413 |
29 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs759336070 CA9735412 |
31 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310884253 rs371841556 |
33 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9735410 rs776447549 |
33 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408040611 rs371841556 |
33 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs534809713 CA9735409 |
35 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760302966 CA9735408 |
36 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1219089204 CA408040579 |
36 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA310884207 rs962723373 |
39 | Q>* | No |
ClinGen Ensembl |
|
|
rs772845236 CA9735407 |
39 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781406114 CA9735381 |
40 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310884004 rs769053652 |
42 | D>A | No |
ClinGen gnomAD |
|
|
rs1466193097 CA408040454 RCV001319375 |
42 | D>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs370105557 CA9735378 RCV001327599 |
43 | V>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs370105557 CA9735379 |
43 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754961333 CA9735377 |
45 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9735376 rs200844637 |
46 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9735375 rs780011142 |
47 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1351041781 CA408040384 |
47 | G>V | No |
ClinGen TOPMed |
|
|
CA408040374 rs1318009865 |
48 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1200058441 CA408040380 |
48 | S>P | No |
ClinGen gnomAD |
|
|
rs1294818224 CA408040356 |
50 | P>S | No |
ClinGen TOPMed |
|
|
rs1242185433 CA408040327 |
52 | T>I | No |
ClinGen gnomAD |
|
|
RCV001228256 CA9735373 rs139768114 |
53 | M>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA408040324 rs1363866763 |
53 | M>V | No |
ClinGen TOPMed |
|
|
rs1290485337 CA408040280 |
56 | G>* | No |
ClinGen TOPMed |
|
| TCGA novel | 57 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764648168 CA9735369 |
58 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1215607424 CA408040220 |
61 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408040212 rs1448078371 |
62 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9735367 rs775917325 |
64 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA408040165 rs1189393380 |
65 | H>Y | No |
ClinGen TOPMed |
|
|
CA9735365 rs759903876 |
68 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408040125 rs759903876 |
68 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408040101 rs1163098603 |
70 | V>L | No |
ClinGen TOPMed |
|
|
CA408040077 rs1418280879 |
72 | K>Q | No |
ClinGen gnomAD |
|
|
rs1217783596 CA408040007 |
73 | A>P | No |
ClinGen gnomAD |
|
|
rs769737054 CA9735340 |
74 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 77 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408039952 rs1331771471 |
78 | V>L | No |
ClinGen gnomAD |
|
|
rs1331771471 CA408039950 |
78 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756941685 CA408039916 |
80 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM214326 rs746677639 CA9735336 |
81 | Q>* | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA408039909 rs746677639 |
81 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1013250648 CA310883668 |
82 | E>G | No |
ClinGen TOPMed |
|
|
CA310883675 rs1023596307 |
82 | E>Q | No |
ClinGen TOPMed |
|
|
CA9735333 rs752179858 |
85 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9735334 rs757925546 |
85 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735330 RCV001316394 rs369809528 |
91 | M>I | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
| TCGA novel | 93 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287645740 CA408039719 |
95 | E>Q | No |
ClinGen TOPMed |
|
|
CA408039685 rs1568551330 |
97 | L>P | No |
ClinGen Ensembl |
|
|
rs1194938197 CA408039665 |
99 | Q>E | No |
ClinGen gnomAD |
|
|
rs1485554142 CA408039636 |
103 | S>Y | No |
ClinGen gnomAD |
|
|
rs766771973 CA9735327 |
109 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408039575 rs1202731663 |
111 | I>M | No |
ClinGen gnomAD |
|
|
rs1342990052 CA408039580 |
111 | I>V | No |
ClinGen TOPMed |
|
|
CA408039031 rs1299477675 |
114 | K>E | No |
ClinGen gnomAD |
|
|
rs1173511571 CA408038966 |
118 | P>L | No |
ClinGen gnomAD |
|
|
CA408038917 rs1272972666 |
122 | K>E | No |
ClinGen Ensembl |
|
|
CA9735306 rs762110349 |
122 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774655125 CA9735305 |
126 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3693354 CA9735304 COSM3693355 rs764236244 |
127 | S>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA408038840 rs1404435895 |
128 | Y>C | No |
ClinGen gnomAD |
|
|
rs776651371 CA9735302 |
131 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM723230 RCV001319725 CA9735303 rs762900851 |
131 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9735289 RCV001337889 rs757627319 |
134 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA408038728 rs1288749560 |
134 | R>H | No |
ClinGen TOPMed |
|
|
CA408038730 rs1288749560 |
134 | R>P | No |
ClinGen TOPMed |
|
| TCGA novel | 135 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9735286 rs763141424 |
139 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764171480 CA9735287 |
139 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9735285 rs375461838 |
141 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs2086932250 RCV001308631 |
142 | V>A | No |
ClinVar dbSNP |
|
|
rs368476078 CA310881766 |
142 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9735282 rs773069784 |
143 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1339408652 CA408038587 |
146 | K>Q | No |
ClinGen gnomAD |
|
|
CA408038526 rs1421902349 |
151 | Y>C | No |
ClinGen gnomAD |
|
|
rs1600169909 CA408038511 |
152 | M>K | No |
ClinGen Ensembl |
|
|
rs1361498639 CA408038515 |
152 | M>L | No |
ClinGen gnomAD |
|
|
rs1361498639 CA408038518 |
152 | M>V | No |
ClinGen gnomAD |
|
|
rs774105077 CA408038499 |
154 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774105077 CA9735279 |
154 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735280 rs761550849 |
154 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408038488 rs1256356519 |
156 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310881714 RCV001313622 rs981954746 |
157 | N>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA408038361 rs1465433477 |
163 | I>V | No |
ClinGen TOPMed |
|
|
CA9735276 rs185838502 |
164 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9735274 rs746378978 |
164 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746378978 CA9735275 |
164 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs11542741 VAR_049781 CA310881690 |
166 | Q>H | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs1600169761 CA408038263 |
169 | G>R | No |
ClinGen Ensembl |
|
|
rs1209362845 CA408038239 |
170 | E>* | No |
ClinGen gnomAD |
|
|
CA9735271 rs141149759 RCV001344043 |
173 | S>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 174 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9735269 rs758544262 |
177 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2086927107 RCV001240855 |
178 | S>G | No |
ClinVar dbSNP |
|
|
rs376423227 RCV001062898 CA9735247 |
180 | R>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9735246 rs561350905 RCV001341735 |
181 | G>D | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1368091171 CA408037922 |
182 | V>M | No |
ClinGen gnomAD |
|
|
CA9735243 rs757133714 |
187 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1457235305 CA408037754 |
189 | V>I | No |
ClinGen gnomAD |
|
|
CA9735241 rs763798195 |
190 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA408037735 rs763798195 |
190 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA9735240 rs755960696 |
191 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264485788 CA408037720 |
191 | R>Q | No |
ClinGen gnomAD |
|
|
rs775301659 CA9735239 |
192 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA408037687 rs1281370300 |
192 | A>V | No |
ClinGen Ensembl |
|
|
rs866647076 CA310881398 |
195 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9735237 rs759156747 |
196 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310881384 rs939148138 |
196 | R>Q | No |
ClinGen gnomAD |
|
|
RCV001304958 rs759156747 CA408037603 |
196 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA408037573 rs1444044974 |
197 | I>N | No |
ClinGen gnomAD |
|
|
RCV001337412 rs1444044974 |
197 | I>T | No |
ClinVar dbSNP |
|
|
CA408037568 rs1256832298 |
198 | A>T | No |
ClinGen gnomAD |
|
|
rs144124297 CA9735236 |
200 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9735234 rs750406173 |
201 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390023518 CA408037469 |
202 | F>C | No |
ClinGen gnomAD |
|
|
CA408037472 rs1390023518 |
202 | F>S | No |
ClinGen gnomAD |
|
|
CA408037444 rs1568548655 |
203 | D>A | No |
ClinGen Ensembl |
|
|
rs1459595383 CA408037418 |
204 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 208 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748525583 CA9735231 |
209 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs930177255 CA310881364 |
210 | R>L | No |
ClinGen TOPMed |
|
|
CA9735229 rs527817401 |
210 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs749431942 CA310881357 |
211 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749431942 CA9735228 |
211 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408037257 rs1378393982 |
211 | G>R | No |
ClinGen gnomAD |
|
|
rs1600169208 CA408037197 |
213 | V>G | No |
ClinGen Ensembl |
|
|
CA408037179 rs1568548579 |
214 | T>I | No |
ClinGen Ensembl |
|
|
CA9735226 rs756148496 |
220 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756148496 CA408037042 |
220 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408037008 rs1189115476 |
221 | I>V | No |
ClinGen gnomAD |
|
|
CA310881344 rs942955814 |
222 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs143110856 RCV001056890 |
228 | L>F | No |
ClinVar dbSNP |
|
|
RCV001246979 rs752597235 CA9735199 |
229 | F>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1170355738 CA408036581 |
232 | C>Y | No |
ClinGen gnomAD |
|
|
rs766500760 CA9735198 |
233 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1173363650 CA408036513 |
235 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1422097301 CA408036459 |
237 | A>G | No |
ClinGen TOPMed |
|
|
CA9735197 rs778864541 |
237 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 238 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001298541 rs2086918949 |
238 | E>K | No |
ClinVar dbSNP |
|
|
RCV001042901 rs2086918717 |
241 | P>L | No |
ClinVar dbSNP |
|
|
rs754780260 CA9735196 |
241 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs372393324 CA310881241 |
246 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1194323125 CA408036231 |
247 | T>A | No |
ClinGen gnomAD |
|
|
CA310881236 rs975005631 |
248 | M>I | No |
ClinGen Ensembl |
|
|
rs1254684860 CA408036209 |
248 | M>V | No |
ClinGen gnomAD |
|
|
CA9735194 rs766033727 |
249 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9735193 rs760146050 |
250 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs767970629 RCV001227188 CA9735192 |
252 | N>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA9735171 rs764560097 |
258 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA408035880 rs1443934340 |
260 | N>K | No |
ClinGen gnomAD |
|
|
CA9735170 rs763344876 |
263 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs368691057 CA9735169 |
264 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408035756 rs1404338974 |
266 | V>E | No |
ClinGen gnomAD |
|
|
rs1389058060 CA408035733 |
268 | V>L | No |
ClinGen gnomAD |
|
|
rs1389058060 CA408035739 |
268 | V>M | No |
ClinGen gnomAD |
|
|
rs765433750 CA9735168 |
271 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs886043702 RCV000362984 CA10605841 |
273 | Y>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 275 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344754168 CA408035505 |
281 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 283 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9735165 rs370080916 |
285 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747063839 CA9735164 |
286 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309631456 CA408035399 |
289 | G>A | No |
ClinGen TOPMed |
|
|
CA9735162 rs768712975 |
289 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1378857333 CA408035367 |
291 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 292 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749155758 CA9735161 |
293 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA408035294 rs1300586392 |
295 | S>N | No |
ClinGen TOPMed |
|
|
CA9735160 rs779915412 |
296 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1374913703 CA408035255 |
297 | S>I | No |
ClinGen gnomAD |
|
|
CA9735159 rs755802626 |
298 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA408035242 rs755802626 |
298 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1210972287 CA408035218 |
299 | E>A | No |
ClinGen TOPMed |
|
|
CA408035226 rs1311647834 |
299 | E>K | No |
ClinGen TOPMed |
|
|
CA9735157 rs780655798 |
301 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA408035153 rs1198252155 |
302 | V>A | No |
ClinGen TOPMed |
|
|
rs751036004 CA9735155 |
303 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA408035142 rs1239104000 |
303 | F>V | No |
ClinGen TOPMed |
|
|
rs1568547902 CA408035103 |
304 | E>G | No |
ClinGen Ensembl |
|
|
rs374735773 CA9735154 RCV001247357 |
305 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs779265043 CA9735132 |
308 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735133 rs753278957 |
308 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755409395 CA9735131 |
310 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1486838963 CA408034219 |
310 | P>S | No |
ClinGen gnomAD |
|
|
CA408034202 rs1209251879 |
311 | F>C | No |
ClinGen gnomAD |
|
|
rs201359459 CA310879385 |
312 | A>V | No |
ClinGen gnomAD |
|
|
CA310879378 rs966931423 |
313 | Q>* | No |
ClinGen gnomAD |
|
|
rs60486004 CA310879377 |
315 | V>G | No |
ClinGen Ensembl |
|
|
rs1293952805 CA408034162 |
317 | R>G | No |
ClinGen gnomAD |
|
|
CA408034151 rs1216687710 |
318 | N>S | No |
ClinGen gnomAD |
|
|
rs760988532 CA9735128 |
319 | I>R | No |
ClinGen ExAC |
|
|
rs1363013209 CA408034137 |
320 | A>D | No |
ClinGen gnomAD |
|
|
rs750603796 CA9735127 |
321 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735125 rs761746176 |
322 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337430813 CA408034122 |
323 | T>A | No |
ClinGen gnomAD |
|
|
rs775550076 CA9735124 |
323 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735123 rs769591882 |
324 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735122 rs759444922 |
324 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA408034104 rs1328292415 |
326 | L>V | No |
ClinGen TOPMed |
|
|
CA9735120 rs770656240 |
328 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1181231670 CA408034089 |
329 | A>P | No |
ClinGen gnomAD |
|
|
rs1382137336 CA408034082 |
330 | S>A | No |
ClinGen gnomAD |
|
|
rs1442657140 CA408034079 |
330 | S>F | No |
ClinGen gnomAD |
|
|
rs777364642 CA9735118 |
331 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1457095738 CA408034056 |
334 | R>Q | No |
ClinGen gnomAD |
|
|
CA9735117 rs374613588 |
334 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408034051 rs1206114954 |
335 | H>Y | No |
ClinGen gnomAD |
|
|
CA408033960 rs1266222846 |
338 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA408033931 rs1568547204 |
339 | E>D | No |
ClinGen Ensembl |
|
|
rs1367277340 CA408033948 |
339 | E>K | No |
ClinGen gnomAD |
|
|
rs1568547187 CA408033921 |
340 | Y>C | No |
ClinGen Ensembl |
|
|
CA310879262 rs912116666 |
344 | M>I | No |
ClinGen gnomAD |
|
|
rs749874729 CA310879266 |
344 | M>K | No |
ClinGen Ensembl |
|
|
CA9735089 rs373711910 |
344 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368124689 CA9735087 |
346 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs1297618791 CA408033780 |
348 | A>T | No |
ClinGen gnomAD |
|
|
CA9735085 rs766281941 |
348 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408033726 rs1239855984 |
350 | K>E | No |
ClinGen gnomAD |
|
| rs774653761 | 351 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408033701 rs1600166914 |
351 | K>E | No |
ClinGen Ensembl |
|
|
CA9735081 rs140923382 |
356 | G>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs761374122 CA9735080 |
357 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1600165204 CA408032836 |
358 | V>G | No |
ClinGen Ensembl |
|
|
CA408032817 rs151027738 |
359 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001060626 rs151027738 CA9735059 |
359 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs377682152 CA9735060 |
359 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001321293 rs1166890600 CA408032782 |
360 | T>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs762623115 CA9735057 RCV001304041 |
361 | R>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs762623115 CA9735058 |
361 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1241409255 CA408032700 |
363 | M>K | No |
ClinGen gnomAD |
|
|
rs1241409255 CA408032698 |
363 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9735052 rs777157641 |
364 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408032666 rs771224537 |
365 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9735051 rs771224537 |
365 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA408032629 rs1411001866 |
366 | Y>C | No |
ClinGen TOPMed |
|
|
CA9735050 rs538397341 |
368 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408032558 rs1337232653 |
369 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 370 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001036894 rs748311431 CA9735047 |
371 | D>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1454123316 CA408032477 |
373 | I>V | No |
ClinGen gnomAD |
|
|
CA408032436 rs1399128062 |
375 | S>P | No |
ClinGen gnomAD |
|
|
CA9735042 rs750347472 |
376 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781163599 CA408032397 |
377 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773576408 RCV001294839 |
377 | I>M | No |
ClinVar dbSNP |
|
|
CA9735041 rs781163599 |
377 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735038 rs763902412 |
378 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs764873315 CA9735036 |
382 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735033 rs777054148 |
383 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196147298 CA408032262 RCV001227187 |
384 | G>E | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA310878665 rs866632435 |
384 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA310878661 RCV001351040 rs369372221 |
385 | S>T | No |
ClinGen ClinVar ESP dbSNP |
1 associated diseases with O43837
[MIM: 612572]: Retinitis pigmentosa 46 (RP46)
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:18806796}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:18806796}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial isocitrate dehydrogenase complex (NAD+) | Mitochondrial complex that possesses isocitrate dehydrogenase (NAD+) activity. |
| 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. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| electron transfer activity | Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient. |
| isocitrate dehydrogenase (NAD+) activity | Catalysis of the reaction: isocitrate + NAD+ = 2-oxoglutarate + CO2 + NADH. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| NAD binding | Binding to nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NAD+, or the reduced form, NADH. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| 2-oxoglutarate metabolic process | The chemical reactions and pathways involving oxoglutarate, the dianion of 2-oxoglutaric acid. It is a key constituent of the TCA cycle and a key intermediate in amino-acid metabolism. |
| isocitrate metabolic process | The chemical reactions and pathways involving isocitrate, the anion of isocitric acid, 1-hydroxy-1,2,3-propanetricarboxylic acid. Isocitrate is an important intermediate in the TCA cycle and the glycoxylate cycle. |
| NADH metabolic process | The chemical reactions and pathways involving reduced nicotinamide adenine dinucleotide (NADH), a coenzyme present in most living cells and derived from the B vitamin nicotinic acid. |
| tricarboxylic acid cycle | A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAALSGVRWL | TRALVSAGNP | GAWRGLSTSA | AAHAASRSQA | EDVRVEGSFP | VTMLPGDGVG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PELMHAVKEV | FKAAAVPVEF | QEHHLSEVQN | MASEEKLEQV | LSSMKENKVA | IIGKIHTPME |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YKGELASYDM | RLRRKLDLFA | NVVHVKSLPG | YMTRHNNLDL | VIIREQTEGE | YSSLEHESAR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GVIECLKIVT | RAKSQRIAKF | AFDYATKKGR | GKVTAVHKAN | IMKLGDGLFL | QCCEEVAELY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PKIKFETMII | DNCCMQLVQN | PYQFDVLVMP | NLYGNIIDNL | AAGLVGGAGV | VPGESYSAEY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AVFETGARHP | FAQAVGRNIA | NPTAMLLSAS | NMLRHLNLEY | HSSMIADAVK | KVIKVGKVRT |
| 370 | 380 | ||||
| RDMGGYSTTT | DFIKSVIGHL | QTKGS |