Q9UKU7
PR
Gene name |
ACAD8 (ARC42, IBD) |
Protein name |
Isobutyryl-CoA dehydrogenase, mitochondrial |
Names |
IBDH, Activator-recruited cofactor 42 kDa component, ARC42, Acyl-CoA dehydrogenase family member 8, ACAD-8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27034 |
EC number |
1.3.8.5: With a flavin as acceptor |
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
2 structures for Q9UKU7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1RX0 | X-ray | 177 A | A/B/C/D | 24-415 | PDB |
| AF-Q9UKU7-F1 | Predicted | AlphaFoldDB |
381 variants for Q9UKU7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs767041100 RCV000686692 |
1 | M>T | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000081616 CA148635 RCV000400133 rs35181923 |
7 | R>P | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001340019 CA383511850 rs1274417206 |
22 | V>F | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000799581 rs1591505809 CA383512471 |
45 | Q>* | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055924 CA6372883 rs767613745 RCV000494326 |
78 | M>T | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA383512918 RCV000645375 rs1330918776 |
84 | L>V | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000314027 CA10630427 rs886048022 |
92 | Q>R | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6372897 RCV000395198 RCV002519077 rs371033488 |
97 | G>R | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000557449 CA231272353 rs948304437 |
98 | S>F | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs773978651 RCV000815640 CA6372898 |
98 | S>P | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763906092 RCV000820529 CA6372903 |
103 | L>R | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs751633406 RCV000370957 RCV000418052 CA6372908 |
113 | A>T | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001224788 rs935057058 CA231272430 |
114 | T>A | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001052041 CA231272442 rs768701760 |
116 | C>* | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001102998 rs1353919966 CA383513696 |
123 | I>K | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001040333 RCV000081617 CA223117 VAR_035071 rs374317179 |
128 | M>I | Deficiency of isobutyryl-CoA dehydrogenase IBDD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs367857040 VAR_035072 RCV000519940 CA223119 |
134 | D>Y | IBDD [UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs371449613 RCV000994754 RCV000535761 CA6372940 VAR_035073 |
137 | G>R | Variant assessed as Somatic; 0.0 impact. Deficiency of isobutyryl-CoA dehydrogenase IBDD; loss of protein solubility; complete loss of isobutyryl-CoA dehydrogenase activity [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs121908418 VAR_035074 RCV000005686 CA117433 |
152 | M>T | Deficiency of isobutyryl-CoA dehydrogenase IBDD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs201273972 RCV000281568 RCV000807309 CA6372950 |
156 | A>S | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs779385985 RCV001865394 CA6372952 RCV000442521 |
158 | Y>C | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs186756646 RCV000081620 RCV001061372 CA223122 |
161 | T>A | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA231276186 rs988461205 RCV001104904 |
165 | S>T | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000545969 rs113488591 CA223125 RCV000994755 RCV000081621 |
171 | S>C | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001228052 CA383515910 rs1288285713 |
176 | A>G | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001242542 CA6372978 rs367999938 |
180 | G>R | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_035075 CA6373016 rs759877257 |
203 | V>I | IBDD [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA6373023 rs151125742 RCV000802478 |
215 | I>V | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000778902 COSM687162 CA6373069 rs746960051 |
244 | R>* | lung Variant assessed as Somatic; 0.0 impact. Deficiency of isobutyryl-CoA dehydrogenase [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6373071 RCV000691186 rs780609527 |
245 | A>V | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA231278036 rs899220061 RCV001336183 |
255 | V>M | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000819166 rs368653287 CA223131 RCV000081623 |
262 | E>K | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001053625 rs1246888184 |
265 | G>A | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142790411 CA231278115 COSM1352765 RCV001106066 |
269 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine Deficiency of isobutyryl-CoA dehydrogenase [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
rs371156848 RCV001298364 CA6373086 |
274 | N>K | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001106067 rs1317315596 CA383516910 |
278 | I>T | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1939865617 RCV001068359 |
283 | C>W | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000005689 RCV001053626 rs121908421 CA117441 |
289 | H>Q | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC TOPMed gnomAD |
|
CA6373125 rs775062752 RCV001106069 |
296 | R>Q | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000793961 rs121908422 CA383517088 |
302 | R>P | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA117444 RCV000005690 COSM1244063 rs121908422 VAR_035076 RCV000180314 |
302 | R>Q | oesophagus Deficiency of isobutyryl-CoA dehydrogenase IBDD; no effect on localization to the mitochondrion; complete loss of isobutyryl-CoA dehydrogenase activity; loss of protein expression in patient cells [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000692863 rs200620279 RCV000414228 RCV002523903 CA6373180 VAR_035077 |
320 | A>T | Inborn genetic diseases Deficiency of isobutyryl-CoA dehydrogenase IBDD; decreased isobutyryl-CoA dehydrogenase activity; less than 20% of wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000152727 rs577976129 RCV000816499 CA233422 |
322 | M>T | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001108302 rs751260935 CA6373187 |
329 | A>T | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752153225 RCV001208668 CA6373189 |
330 | R>Q | Variant assessed as Somatic; 0.0 impact. Deficiency of isobutyryl-CoA dehydrogenase [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000005688 CA117438 rs121908420 RCV000523989 |
330 | R>W | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6373194 VAR_035078 rs778823613 RCV000815639 |
334 | R>C | Deficiency of isobutyryl-CoA dehydrogenase IBDD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000645376 CA6373196 rs768954546 |
335 | N>S | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs995149464 RCV001240465 CA231279065 |
362 | C>R | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs121908419 RCV000081615 CA117435 RCV000005687 |
377 | G>S | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6373238 RCV001320017 rs779459988 |
378 | Y>S | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6373241 RCV001108303 rs200234092 RCV002558083 COSM3979415 |
383 | A>T | lung Inborn genetic diseases Deficiency of isobutyryl-CoA dehydrogenase [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6373242 RCV001304878 VAR_035079 rs367996531 |
385 | Q>R | Deficiency of isobutyryl-CoA dehydrogenase IBDD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1218106884 RCV001352603 |
398 | E>G | Deficiency of isobutyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493586 rs751940610 |
1 | M>I | No |
ClinVar dbSNP |
|
|
rs781624706 CA6372802 |
2 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1241968660 CA383511551 |
2 | L>V | No |
ClinGen TOPMed |
|
|
rs755789341 CA383511595 |
4 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755789341 CA6372804 |
4 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA383511603 rs1565367702 |
4 | S>N | No |
ClinGen Ensembl |
|
|
CA6372806 rs777227435 CA6372805 |
4 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344518491 CA383511626 |
5 | G>A | No |
ClinGen gnomAD |
|
|
rs1344518491 CA383511633 |
5 | G>D | No |
ClinGen gnomAD |
|
|
CA6372808 rs778885501 |
5 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6372809 rs745817515 |
6 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs771703192 CA6372810 |
7 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA383511650 rs771703192 |
7 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA231269089 rs11550636 |
8 | R>C | No |
ClinGen Ensembl |
|
|
rs1380223528 CA383511675 |
9 | F>C | No |
ClinGen gnomAD |
|
|
rs773403936 CA6372813 |
11 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs773403936 CA383511703 |
11 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6372814 rs763184990 |
12 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs766989918 CA6372815 |
12 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs774656588 CA6372816 |
13 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383511737 rs1208867244 |
14 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1216296825 CA383511726 |
14 | G>R | No |
ClinGen TOPMed |
|
|
CA383511739 rs1208867244 |
14 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1269435407 CA383511746 |
15 | C>S | No |
ClinGen TOPMed |
|
|
rs1064793430 RCV000484986 |
16 | L>missing | No |
ClinVar dbSNP |
|
|
rs1027381166 CA231269161 |
16 | L>V | No |
ClinGen TOPMed |
|
|
CA383511822 rs1440189660 |
19 | G>A | No |
ClinGen gnomAD |
|
|
rs1406981659 CA383511808 |
19 | G>S | No |
ClinGen gnomAD |
|
|
CA383511837 rs1160405320 |
20 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA383511834 rs1160405320 |
20 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1175536863 CA383511855 |
22 | V>G | No |
ClinGen gnomAD |
|
|
CA6372820 rs755736421 |
24 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1376668539 CA383511893 |
25 | Q>* | No |
ClinGen gnomAD |
|
|
rs753339089 CA6372822 |
27 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs895526348 CA231269207 |
27 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA231269209 rs1010004478 |
28 | H>R | No |
ClinGen TOPMed |
|
|
CA383511958 rs1313514340 |
29 | R>Q | No |
ClinGen gnomAD |
|
|
rs1278727402 CA383511955 |
29 | R>W | No |
ClinGen gnomAD |
|
|
rs756685371 CA6372823 |
30 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6372824 rs778496408 |
32 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA383512087 rs1477692239 |
37 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383512430 rs1291168624 |
42 | N>S | No |
ClinGen gnomAD |
|
|
rs751397190 CA383512464 |
44 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372844 rs780096296 |
44 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383512494 rs1412677737 |
47 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA231271764 rs1047984981 |
47 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1412677737 CA383512499 |
47 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA383512521 rs1344491595 |
49 | Q>* | No |
ClinGen TOPMed |
|
|
rs144458899 CA231271774 |
51 | V>M | No |
ClinGen ESP |
|
|
rs931572188 CA231271783 |
52 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs931572188 CA383512554 |
52 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA231271784 rs931572188 |
52 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383512571 rs1196139736 |
53 | F>L | No |
ClinGen gnomAD |
|
|
rs1294971620 CA383512606 |
56 | A>G | No |
ClinGen gnomAD |
|
|
CA383512612 rs1286999658 |
57 | A>P | No |
ClinGen TOPMed |
|
|
rs781149925 CA6372849 |
58 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372850 rs749474432 |
58 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383512633 rs1164263704 |
59 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6372851 rs374985215 |
60 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6372853 rs746013093 |
64 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6372854 rs772448494 |
65 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs775905049 CA6372855 |
66 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1310676331 CA383512721 |
68 | D>Y | No |
ClinGen gnomAD |
|
|
CA383512727 rs1339547372 |
69 | Q>* | No |
ClinGen gnomAD |
|
|
rs759517850 CA6372882 |
72 | L>P | No |
ClinGen ExAC |
|
|
rs1196048455 CA383512859 |
78 | M>I | No |
ClinGen gnomAD |
|
|
CA6372884 rs377629003 |
79 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383512865 rs141333391 |
79 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6372885 rs141333391 |
79 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377629003 CA233419 |
79 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs972868326 CA231272297 |
82 | A>T | No |
ClinGen gnomAD |
|
|
CA6372886 rs551875847 |
83 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA231272299 rs918565205 |
85 | G>C | No |
ClinGen Ensembl |
|
|
CA383512957 rs747139706 CA6372889 |
87 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231272313 rs570580017 |
88 | G>R | No |
ClinGen 1000Genomes |
|
|
CA383513009 rs1591506943 |
89 | V>G | No |
ClinGen Ensembl |
|
|
rs1257948775 CA383513030 |
91 | I>V | No |
ClinGen gnomAD |
|
|
rs748606570 CA6372892 |
95 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6372895 rs773472208 |
96 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383513152 rs1433228446 |
97 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1477297085 CA383513182 |
99 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6372899 rs759177553 |
102 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383513252 rs759177553 |
102 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383513256 rs143823240 |
102 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6372900 rs143823240 |
102 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6372901 rs143823240 |
102 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759177553 CA383513253 |
102 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383513261 rs760547139 |
103 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372902 rs760547139 |
103 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373557720 CA231272359 |
105 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA383513298 rs1591507090 |
105 | T>P | No |
ClinGen Ensembl |
|
|
CA6372906 rs758621146 |
107 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1285339776 CA383513379 |
108 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA231272407 rs11550637 |
109 | F>L | No |
ClinGen TOPMed |
|
|
CA383513405 rs11550637 |
109 | F>V | No |
ClinGen TOPMed |
|
|
CA383513590 rs1243115880 |
116 | C>R | No |
ClinGen gnomAD |
|
|
rs1591507217 CA383513609 |
117 | T>P | No |
ClinGen Ensembl |
|
|
rs1591507225 CA383513629 |
118 | S>R | No |
ClinGen Ensembl |
|
|
CA383513653 rs1211044438 |
119 | T>I | No |
ClinGen gnomAD |
|
|
CA6372910 rs781262349 |
119 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6372911 rs748640316 |
120 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6372912 rs151267852 |
122 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6372913 rs1353919966 |
123 | I>T | No |
ClinGen TOPMed |
|
|
rs779484480 CA231272462 |
123 | I>V | No |
ClinGen Ensembl |
|
|
rs1266898337 CA383513708 |
124 | S>G | No |
ClinGen gnomAD |
|
|
rs778171160 CA383513736 |
125 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372932 rs752761235 |
128 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs778203609 RCV000486505 CA6372933 |
129 | C>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs866403074 CA231275626 |
134 | D>G | No |
ClinGen Ensembl |
|
|
CA6372936 rs140515698 |
135 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143408080 CA6372939 |
136 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA231275657 rs997131128 |
136 | F>L | No |
ClinGen TOPMed |
|
|
CA383515146 rs1280737098 |
138 | N>S | No |
ClinGen gnomAD |
|
|
rs776363572 CA6372942 |
140 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs776363572 CA383515290 |
140 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6372943 rs761751430 |
143 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1008690789 CA231275710 |
144 | K>E | No |
ClinGen TOPMed |
|
|
rs1301535598 CA383515423 |
144 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 144 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325312319 CA383515492 |
147 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs374584216 COSM925193 CA6372945 |
148 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs398124269 RCV000081619 |
150 | C>missing | No |
ClinVar dbSNP |
|
|
CA6372948 rs752810983 |
150 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA6372949 rs760736043 |
152 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383515662 rs1273432381 |
154 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 157 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 162 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331422944 CA383515782 |
162 | E>Q | No |
ClinGen gnomAD |
|
|
CA383515807 rs1348714132 |
163 | P>R | No |
ClinGen gnomAD |
|
|
CA383515810 rs1435109411 |
164 | G>R | No |
ClinGen gnomAD |
|
|
rs988461205 CA383515845 |
165 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs912924927 CA231276209 |
166 | G>E | No |
ClinGen TOPMed |
|
|
CA6372970 rs760969754 |
166 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1238051066 CA383515860 |
168 | D>N | No |
ClinGen TOPMed |
|
|
CA383515874 rs1228851753 |
170 | A>T | No |
ClinGen gnomAD |
|
|
rs776887053 CA383515886 |
172 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372971 rs776887053 |
172 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383515901 rs1447812123 |
175 | S>P | No |
ClinGen gnomAD |
|
|
CA6372975 rs750810427 |
176 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372976 rs745560233 |
177 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225891050 CA383515920 |
178 | K>E | No |
ClinGen Ensembl |
|
|
CA6372977 rs766778250 |
179 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754690770 CA6372979 |
180 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332592256 CA383515948 |
182 | H>N | No |
ClinGen TOPMed |
|
|
rs1385160389 CA383515950 |
182 | H>R | No |
ClinGen gnomAD |
|
|
rs780650547 CA6372980 |
183 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372981 rs747706164 |
184 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339680789 CA383515973 |
186 | N>D | No |
ClinGen gnomAD |
|
|
rs200170162 CA6372982 |
186 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1317069087 CA383515995 |
189 | K>T | No |
ClinGen gnomAD |
|
|
CA383516018 rs1285533961 |
190 | A>V | No |
ClinGen gnomAD |
|
|
rs1555066310 CA383516019 |
191 | F>L | No |
ClinGen Ensembl |
|
|
CA6373013 rs377263662 |
192 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771419550 CA6373014 |
193 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA6373015 rs774591276 |
195 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383516050 rs774591276 |
195 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383516059 rs1207482914 |
197 | E>* | No |
ClinGen gnomAD |
|
|
CA231276805 rs908083700 |
199 | D>H | No |
ClinGen Ensembl |
|
|
CA383516088 rs1488615377 |
201 | Y>H | No |
ClinGen TOPMed |
|
|
rs886043698 CA10605837 RCV000261169 |
202 | V>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM673547 CA231276841 rs369445365 |
206 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA223128 RCV000081622 rs369445365 |
206 | R>G | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs374148675 CA6373018 |
206 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 207 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170959795 CA383516154 |
207 | T>R | No |
ClinGen gnomAD |
|
|
rs760295777 CA6373019 |
208 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA231276850 rs973537605 |
209 | G>R | No |
ClinGen Ensembl |
|
|
CA231276856 rs17849561 |
210 | P>L | No |
ClinGen TOPMed |
|
|
CA6373021 rs267602788 |
212 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA231276858 rs968344615 |
213 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA231276874 rs151125742 |
215 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6373025 rs758328658 |
218 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6373026 rs779974265 |
223 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6373027 rs748422726 |
224 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383516322 rs1243281617 |
224 | T>S | No |
ClinGen gnomAD |
|
|
CA383516349 rs770101596 |
227 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770101596 CA6373028 |
227 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6373030 rs749331373 |
229 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs777736629 CA6373029 |
229 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1361258535 CA383516386 |
230 | G>D | No |
ClinGen TOPMed |
|
|
CA6373032 rs774987397 |
232 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247040528 CA383516418 |
233 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421940404 CA383516445 |
235 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1591513626 CA383516543 |
236 | V>A | No |
ClinGen Ensembl |
|
|
CA383516553 rs1387130817 |
237 | G>E | No |
ClinGen TOPMed |
|
|
rs767201554 CA6373065 |
238 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs370199799 CA6373066 |
239 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1591513654 CA383516575 |
239 | N>T | No |
ClinGen Ensembl |
|
|
CA6373067 rs757386559 |
243 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746960051 CA6373068 |
244 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383516632 rs758914454 |
244 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000733053 rs758914454 CA6373070 |
244 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA383516659 rs1234707832 |
247 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1198941771 CA383516675 |
249 | E>K | No |
ClinGen gnomAD |
|
|
CA6373074 rs776832750 |
250 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383516723 rs1481623417 |
252 | A>V | No |
ClinGen gnomAD |
|
|
CA6373075 rs537831211 |
253 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383516739 rs1411042014 |
254 | P>H | No |
ClinGen gnomAD |
|
|
rs200754189 CA6373078 |
256 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347584475 CA383516752 |
256 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383516779 rs1303375206 |
258 | R>K | No |
ClinGen gnomAD |
|
|
rs765982422 CA6373079 |
259 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA383516808 rs1339951708 |
262 | E>A | No |
ClinGen gnomAD |
|
|
rs1591513828 CA383516824 |
264 | Q>L | No |
ClinGen Ensembl |
|
|
rs1246888184 CA383516832 |
265 | G>V | No |
ClinGen gnomAD |
|
|
CA6373084 rs757519037 |
268 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231278117 rs1033152085 |
270 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6373085 rs750643088 |
272 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1404972657 CA383516884 |
274 | N>S | No |
ClinGen TOPMed |
|
|
CA6373087 COSM1181508 rs374265813 |
275 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA383516895 rs1163678984 |
276 | G>E | No |
ClinGen gnomAD |
|
|
rs1411285668 CA383516899 |
277 | R>G | No |
ClinGen gnomAD |
|
|
rs1417518919 CA383516906 |
278 | I>V | No |
ClinGen gnomAD |
|
|
rs781637075 CA6373090 |
280 | I>T | No |
ClinGen ExAC |
|
|
CA6373089 rs755402140 |
280 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6373112 rs770663870 |
282 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1173943639 CA383516957 |
284 | S>P | No |
ClinGen gnomAD |
|
|
CA383516965 rs1221369382 |
285 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6373115 rs771611393 |
285 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3979413 CA6373117 rs760641912 |
287 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs768482407 CA6373118 RCV000994756 |
288 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs144566960 CA6373121 |
290 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6373122 rs766531579 |
292 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA383517006 rs1281673630 |
293 | I>V | No |
ClinGen gnomAD |
|
|
CA383517019 rs1591514362 |
295 | T>P | No |
ClinGen Ensembl |
|
|
CA6373124 rs759600553 |
296 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383517025 rs775062752 |
296 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383517032 rs1591514384 |
297 | D>A | No |
ClinGen Ensembl |
|
|
rs1194674341 CA383517038 |
298 | H>P | No |
ClinGen gnomAD |
|
|
rs1338036982 CA383517037 |
298 | H>Y | No |
ClinGen gnomAD |
|
|
rs753192386 CA6373126 |
299 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756612574 CA6373127 |
302 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA231278387 rs1028456640 |
304 | Q>E | No |
ClinGen Ensembl |
|
|
rs754767707 CA231278401 |
307 | E>K | No |
ClinGen Ensembl |
|
|
rs1480631595 CA383517177 |
308 | P>R | No |
ClinGen gnomAD |
|
|
CA6373131 rs778637892 |
311 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745524886 CA6373132 |
313 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
CA231278821 rs981529310 |
315 | L>F | No |
ClinGen Ensembl |
|
|
CA6373176 rs777450263 |
316 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6373175 rs777450263 |
316 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA383517831 rs777450263 |
316 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 316 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780386471 CA6373178 |
317 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs776814989 CA6373181 |
321 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs577976129 CA383517926 |
322 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577976129 CA6373182 |
322 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383517921 rs1167657404 |
322 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6373183 rs773453817 |
324 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1222727339 CA383518003 |
325 | R>S | No |
ClinGen gnomAD |
|
|
rs398124270 CA223134 RCV000081624 |
326 | L>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383518006 rs914784637 |
326 | L>V | No |
ClinGen gnomAD |
|
|
CA383518021 rs1334287760 |
327 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
COSM925198 CA6373188 rs372521286 |
329 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383518103 rs1426504754 |
332 | M>I | No |
ClinGen TOPMed |
|
|
CA6373193 rs545436860 |
332 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6373192 rs753713108 |
332 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383518117 rs1591515425 |
333 | V>G | No |
ClinGen Ensembl |
|
|
rs747268139 CA6373195 |
334 | R>H | No |
ClinGen ExAC |
|
|
CA383518140 rs1421816413 |
335 | N>D | No |
ClinGen TOPMed |
|
|
CA383518166 rs1591515462 |
335 | N>K | No |
ClinGen Ensembl |
|
|
CA231278994 rs202247761 |
336 | A>V | No |
ClinGen Ensembl |
|
|
CA383518229 rs1007974686 |
338 | V>L | No |
ClinGen TOPMed |
|
|
CA231278997 rs1007974686 |
338 | V>M | No |
ClinGen TOPMed |
|
|
CA6373197 rs781438252 |
339 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA383518326 rs1591515503 |
343 | E>G | No |
ClinGen Ensembl |
|
|
rs150537378 CA6373198 |
346 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383518390 rs1224033017 |
346 | D>V | No |
ClinGen TOPMed |
|
|
rs1591515530 CA383518409 |
347 | A>S | No |
ClinGen Ensembl |
|
|
rs903387699 CA231279025 |
347 | A>V | No |
ClinGen TOPMed |
|
|
CA383518446 rs1283718023 |
349 | A>V | No |
ClinGen gnomAD |
|
|
rs769758415 CA6373199 |
350 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA383518551 rs1591515563 |
355 | K>E | No |
ClinGen Ensembl |
|
|
CA383518556 rs1297308994 |
355 | K>R | No |
ClinGen gnomAD |
|
|
CA6373201 rs763347842 |
356 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383518644 rs1489922592 |
360 | D>G | No |
ClinGen gnomAD |
|
|
rs771366192 CA6373202 |
361 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1199102573 CA383518666 |
361 | E>Q | No |
ClinGen gnomAD |
|
| rs146813391 | 364 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4165718 CA383518912 rs1555067383 |
365 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1307639884 CA383518958 |
367 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383518980 rs750383034 |
368 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA6373231 rs750383034 |
368 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1450910902 CA383519040 |
371 | Q>H | No |
ClinGen TOPMed |
|
|
rs1411991005 CA383519037 |
371 | Q>L | No |
ClinGen gnomAD |
|
|
rs758326716 CA6373232 |
373 | H>D | No |
ClinGen ExAC TOPMed |
|
|
CA383519084 rs1330982154 |
374 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6373235 rs756249362 |
375 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs753005132 CA6373234 |
375 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs370844523 CA231279761 |
377 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370844523 CA6373237 |
377 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746357281 CA6373239 |
380 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1330127909 CA383519167 |
380 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs965603362 CA231279795 |
381 | D>N | No |
ClinGen Ensembl |
|
|
CA383519230 rs1371333548 |
384 | V>L | No |
ClinGen gnomAD |
|
|
rs1168052621 CA383519244 |
385 | Q>* | No |
ClinGen gnomAD |
|
|
CA231279830 rs965264870 |
386 | Q>* | No |
ClinGen TOPMed |
|
|
rs1425983271 CA383519272 |
386 | Q>H | No |
ClinGen TOPMed |
|
|
CA231279839 rs974935321 |
386 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 387 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139792723 CA231279868 |
388 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6373244 rs139792723 |
388 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6373246 rs372200541 |
389 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6373245 COSM1181507 rs542185860 |
389 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA383519314 rs1325200212 |
390 | D>Y | No |
ClinGen gnomAD |
|
|
rs773332878 CA383519333 |
391 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6373247 rs773332878 |
391 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6373249 rs766307334 |
392 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA231279901 rs984699736 |
394 | H>N | No |
ClinGen TOPMed |
|
|
CA6373250 rs751261888 |
395 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA383519401 rs1488683869 |
396 | I>V | No |
ClinGen gnomAD |
|
|
CA231279903 rs7483314 |
397 | L>V | No |
ClinGen gnomAD |
|
|
rs1218106884 CA383519448 |
398 | E>A | No |
ClinGen TOPMed |
|
|
CA383519464 rs1343561266 |
399 | G>R | No |
ClinGen TOPMed |
|
|
rs1316245657 CA383519691 |
401 | N>H | No |
ClinGen TOPMed |
|
|
rs748935700 CA6373299 |
404 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774285831 CA231282157 |
404 | M>T | No |
ClinGen Ensembl |
|
|
rs748935700 CA383519711 |
404 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6373300 rs756762030 |
405 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA383519743 rs1277106724 |
407 | L>P | No |
ClinGen gnomAD |
|
|
CA383519752 rs1450232519 |
408 | I>T | No |
ClinGen gnomAD |
|
|
CA383519768 rs1302252928 |
410 | R>G | No |
ClinGen TOPMed |
|
|
rs146145710 CA6373303 |
411 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247741162 CA383519781 |
411 | S>R | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q9UKU7
[MIM: 611283]: Isobutyryl-CoA dehydrogenase deficiency (IBDD)
An autosomal recessive metabolic disorder characterized by plasma carnitine deficiency and elevated C4-acylcarnitine. Patients manifest variable clinical features including failure to thrive, seizures, anemia, muscular hypotonia and developmental delay. Some patients may be asymptomatic. {ECO:0000269|PubMed:12359132, ECO:0000269|PubMed:15505379, ECO:0000269|PubMed:16857760}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive metabolic disorder characterized by plasma carnitine deficiency and elevated C4-acylcarnitine. Patients manifest variable clinical features including failure to thrive, seizures, anemia, muscular hypotonia and developmental delay. Some patients may be asymptomatic. {ECO:0000269|PubMed:12359132, ECO:0000269|PubMed:15505379, ECO:0000269|PubMed:16857760}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q9UKU7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | THIF-type NAD/FAD binding fold | 63 - 364 | IPR000594 |
| domain | E2 binding | 373 - 461 | IPR014929 |
| domain | NEDD8-activating enzyme E1 catalytic subunit, N-terminal domain | 70 - 367 | IPR030468 |
| active_site | Ubiquitin-activating enzyme E1, Cys active site | 234 - 242 | IPR033127 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.3.8.5 | With a flavin as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| acyl-CoA dehydrogenase activity | Catalysis of the reaction: acyl-CoA + oxidized |
| flavin adenine dinucleotide binding | Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| valine catabolic process | The chemical reactions and pathways resulting in the breakdown of valine, 2-amino-3-methylbutanoic acid. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLWSGCRRFG | ARLGCLPGGL | RVLVQTGHRS | LTSCIDPSMG | LNEEQKEFQK | VAFDFAAREM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| APNMAEWDQK | ELFPVDVMRK | AAQLGFGGVY | IQTDVGGSGL | SRLDTSVIFE | ALATGCTSTT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AYISIHNMCA | WMIDSFGNEE | QRHKFCPPLC | TMEKFASYCL | TEPGSGSDAA | SLLTSAKKQG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DHYILNGSKA | FISGAGESDI | YVVMCRTGGP | GPKGISCIVV | EKGTPGLSFG | KKEKKVGWNS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QPTRAVIFED | CAVPVANRIG | SEGQGFLIAV | RGLNGGRINI | ASCSLGAAHA | SVILTRDHLN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VRKQFGEPLA | SNQYLQFTLA | DMATRLVAAR | LMVRNAAVAL | QEERKDAVAL | CSMAKLFATD |
| 370 | 380 | 390 | 400 | 410 | |
| ECFAICNQAL | QMHGGYGYLK | DYAVQQYVRD | SRVHQILEGS | NEVMRILISR | SLLQE |