P16219
PR
Gene name |
ACADS |
Protein name |
Short-chain specific acyl-CoA dehydrogenase, mitochondrial |
Names |
SCAD, Butyryl-CoA dehydrogenase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:35 |
EC number |
1.3.8.1: 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
5 structures for P16219
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2VIG | X-ray | 190 A | A/B/C/D/E/F/G/H | 30-412 | PDB |
| 7Y0A | X-ray | 232 A | A/B/C/D | 25-412 | PDB |
| 7Y0B | X-ray | 208 A | A/B/C/D | 25-412 | PDB |
| 8SGS | EM | 315 A | A/B/C/D | 1-412 | PDB |
| AF-P16219-F1 | Predicted | AlphaFoldDB |
446 variants for P16219
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1291226969 RCV000667970 |
1 | M>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000410482 rs1057516967 |
11 | G>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000669021 rs765758808 |
13 | A>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6830733 rs542140065 RCV000804256 |
14 | R>G | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001045267 rs147494970 CA312244 |
16 | A>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6830755 rs773600043 RCV001321208 |
23 | R>Q | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000635336 rs770222581 CA6830754 |
23 | R>W | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000665234 rs750941135 |
37 | T>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516733 RCV000409347 |
42 | L>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758012734 CA6830768 RCV001298378 |
46 | R>Q | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_000310 CA252879 rs121908003 RCV000004029 RCV000185706 |
46 | R>W | Deficiency of butyryl-CoA dehydrogenase ACADSD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1883110478 RCV001225887 |
53 | L>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
CA259857 rs147442301 RCV000023585 |
55 | P>L | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6830779 RCV001043534 COSM238653 rs148789330 |
68 | A>V | Deficiency of butyryl-CoA dehydrogenase prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1883462118 RCV001069728 |
73 | K>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1317080057 RCV001208215 |
74 | M>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217142 rs1883464095 |
81 | A>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000004036 rs121908005 VAR_013565 CA252883 |
90 | G>S | Deficiency of butyryl-CoA dehydrogenase ACADSD; loss of acyl-CoA dehydrogenase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_000311 RCV000004031 rs121908004 CA252880 |
92 | G>C | Deficiency of butyryl-CoA dehydrogenase ACADSD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA386614058 rs1358146160 RCV000668587 |
93 | L>I | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6830812 RCV001348301 rs772604031 |
94 | D>N | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000635343 CA6830820 rs766216232 |
102 | M>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_013566 RCV000185702 rs387906308 RCV000004037 |
104 | E>missing | Deficiency of butyryl-CoA dehydrogenase ACADSD; loss of acyl-CoA dehydrogenase activity [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_013566 rs387906308 |
104 | E>del | ACADSD; loss of acyl-CoA dehydrogenase activity [UniProt] | Yes |
UniProt dbSNP |
|
rs1035363801 RCV000557871 CA244521567 |
105 | I>N | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057516385 RCV000411417 |
106 | S>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000004030 rs61732144 VAR_000312 RCV002512731 RCV000185680 CA312209 |
107 | R>C | Deficiency of butyryl-CoA dehydrogenase Inborn genetic diseases ACADSD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000023587 CA259861 rs387906951 |
108 | G>D | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs117356004 CA6830825 RCV001851031 RCV000442937 |
108 | G>S | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001547320 rs1346829948 RCV000667798 |
109 | C>S | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780571371 RCV000671132 CA6830827 RCV000497900 |
110 | A>T | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA312210 rs747339462 RCV001232488 |
111 | S>F | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1555243946 CA386614248 RCV000546742 |
122 | L>F | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs749491616 RCV000431788 RCV000411998 CA16041566 |
123 | Y>* | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555243949 CA386614278 RCV000556872 |
127 | I>T | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001303853 rs1883486863 |
131 | G>R | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
CA274362 rs752677472 RCV000169493 |
137 | Q>* | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs149107232 RCV000409721 CA6830881 |
139 | W>* | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001349386 rs149107232 RCV000727659 CA6830880 |
139 | W>C | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6830882 RCV001244409 rs767874760 |
141 | T>M | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs148297461 RCV000635338 CA16619449 RCV000482304 |
142 | P>R | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000671239 CA6830884 rs764413160 |
144 | T>I | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1057524803 CA16606080 RCV001244407 RCV000432974 |
150 | G>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555243966 RCV000665149 |
153 | A>Q | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368500899 RCV000549650 CA6830887 |
154 | L>F | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000687693 rs1057523592 RCV000424574 CA16606378 |
154 | L>R | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000674661 rs1555243967 |
155 | S>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305034 CA312212 rs755856935 RCV000185682 |
161 | S>G | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745833347 RCV002298909 RCV001226367 |
165 | A>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1022406482 CA244522672 RCV001109261 |
166 | A>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6830920 RCV000666229 rs777002501 |
169 | T>P | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765604622 CA6830922 RCV001109262 |
170 | A>S | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765604622 CA6830923 RCV000810546 |
170 | A>T | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1800556 RCV000185683 RCV000004034 CA312214 VAR_013567 |
171 | R>W | Deficiency of butyryl-CoA dehydrogenase 69% of wild-type acyl-CoA dehydrogenase activity; confers susceptibility to ethylmalonicaciduria [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP |
|
rs1482609511 RCV001066866 |
172 | A>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516848 CA16041568 RCV000409256 |
176 | S>* | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA252881 RCV000004032 RCV003137488 RCV002512732 RCV002251868 RCV000185684 VAR_000314 rs57443665 |
177 | W>R | Deficiency of butyryl-CoA dehydrogenase Developmental and epileptic encephalopathy, 1 Inborn genetic diseases ACADSD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001562350 rs28940874 RCV000004038 VAR_013568 CA252886 |
192 | A>V | Deficiency of butyryl-CoA dehydrogenase ACADSD; loss of acyl-CoA dehydrogenase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA6830934 RCV001109264 rs369167716 |
193 | S>L | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000410200 rs1057516685 |
198 | F>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001551168 RCV000761220 rs766579880 CA6830940 |
199 | A>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6830942 rs151059234 RCV001109265 |
201 | T>M | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000077896 RCV000185685 CA145599 VAR_000315 rs1799958 RCV000004035 |
209 | G>S | Deficiency of butyryl-CoA dehydrogenase 86% of wild-type acyl-CoA dehydrogenase activity; confers susceptibility to ethylmalonicaciduria [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148588313 RCV001226765 CA312207 |
219 | T>M | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001047285 rs1883526461 |
219 | T>S | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6831032 RCV001374060 rs143131689 RCV001091859 |
223 | T>M | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1181743442 CA386600842 RCV000804184 |
225 | G>R | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000411237 rs1057516436 |
226 | K>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786204691 RCV000185707 RCV000169499 |
228 | E>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755247580 RCV000664602 CA6831035 |
228 | E>K | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000667477 rs532174593 CA6831039 |
234 | R>W | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA6831045 rs551883820 RCV001304546 |
244 | E>K | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA244493917 rs979775355 RCV001242796 |
254 | L>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752079325 RCV001227315 CA6831050 |
259 | M>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002516957 rs796051902 CA312218 RCV000185687 |
271 | G>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6831082 RCV000443456 RCV000635334 rs539219309 |
272 | R>C | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs374726386 RCV000185688 COSM1706375 RCV000664591 CA312220 |
272 | R>H | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. skin [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000527693 CA6831086 rs772531600 |
274 | G>D | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000675088 CA6831085 rs746368198 COSM935962 RCV000338902 |
274 | G>S | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. endometrium haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6831088 RCV001091860 rs199717731 RCV000664997 |
276 | A>T | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000665215 rs762083095 CA6831092 |
281 | G>A | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001297913 CA6831095 COSM3739469 rs758290381 |
283 | A>V | Deficiency of butyryl-CoA dehydrogenase liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001223519 rs781119134 CA6831099 |
286 | A>T | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1373305585 CA386601236 RCV000635342 |
287 | L>F | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000635341 rs777181213 CA6831102 |
290 | A>P | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1057516606 RCV000409916 |
304 | L>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555244266 RCV000674073 |
316 | D>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555244270 RCV000669621 |
317 | M>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777939247 RCV001321704 CA6831149 |
320 | A>S | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001239435 rs1373044759 |
321 | L>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000521041 rs932525260 RCV000671262 CA244494682 |
325 | R>Q | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs121908006 CA252887 RCV000185689 VAR_013569 RCV000004039 |
325 | R>W | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. ACADSD; loss of acyl-CoA dehydrogenase activity [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1347248007 RCV000674364 |
328 | T>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000984237 CA312246 RCV000185708 COSM935963 rs796051906 |
330 | R>C | Deficiency of butyryl-CoA dehydrogenase central_nervous_system endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000185690 CA312222 rs140853839 COSM935963 RCV002252029 RCV000762888 |
330 | R>C | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555244280 CA645372922 COSM467904 RCV000497466 RCV000984238 |
330 | R>H | kidney Deficiency of butyryl-CoA dehydrogenase large_intestine central_nervous_system stomach prostate [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000673525 COSM467904 CA6831153 rs199633532 |
330 | R>H | kidney Deficiency of butyryl-CoA dehydrogenase large_intestine central_nervous_system prostate stomach Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1267288663 COSM3398440 CA386601528 RCV000674029 |
331 | A>T | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA386601538 rs1555244290 RCV000667047 |
332 | A>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000797489 CA244494731 rs200346345 CA386601575 |
337 | N>K | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1883556301 RCV001039671 |
343 | K>R | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000411215 rs1057517155 |
344 | E>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs387906950 CA259859 RCV000023586 |
344 | E>G | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000673648 RCV000498121 CA6831196 rs202078273 |
352 | A>T | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_013570 rs28941773 RCV000185693 RCV000004040 CA252888 |
353 | S>L | Deficiency of butyryl-CoA dehydrogenase ACADSD; loss of acyl-CoA dehydrogenase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA312226 rs796051904 RCV000673078 |
353 | S>P | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs770439736 CA6831198 RCV000685244 |
355 | A>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000671086 CA244495195 rs768733898 |
356 | A>T | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6831203 rs528266975 RCV001303435 |
360 | S>G | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000409699 CA6831204 rs541587321 |
362 | Q>* | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000635332 CA386601736 rs541587321 |
362 | Q>E | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA312228 RCV000411694 rs368469075 RCV000185694 |
365 | Q>H | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA386601786 RCV000635333 rs1433674196 |
368 | G>S | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA312230 rs145466253 RCV001215716 RCV000185695 |
369 | G>S | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA312232 RCV000301353 rs566325901 RCV001258242 RCV000185696 |
370 | M>V | Deficiency of butyryl-CoA dehydrogenase Type 2 diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000185697 CA312234 rs796051905 RCV000675052 |
371 | G>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6831225 rs183161718 RCV000635337 RCV000489608 |
377 | P>L | Deficiency of butyryl-CoA dehydrogenase Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs953436518 CA244495448 RCV001112072 |
379 | E>Q | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA252889 VAR_013571 RCV000185699 rs28940875 RCV000004041 |
380 | R>W | Deficiency of butyryl-CoA dehydrogenase ACADSD; loss of acyl-CoA dehydrogenase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000673261 CA386601878 rs1555244413 |
382 | Y>* | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_000316 CA252882 rs28940872 RCV000004033 RCV000185700 |
383 | R>C | Deficiency of butyryl-CoA dehydrogenase ACADSD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs35233375 VAR_033458 RCV000671248 CA244495485 RCV002252205 |
383 | R>H | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001112073 rs35233375 |
383 | R>L | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000419832 CA6831230 RCV000675060 rs202124189 |
385 | A>S | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA312238 RCV002015980 rs202124189 |
385 | A>T | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs537072819 RCV000635335 RCV000185703 COSM238654 CA312240 |
386 | R>C | Deficiency of butyryl-CoA dehydrogenase prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA312242 RCV001952027 rs766183395 |
386 | R>H | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1057516421 RCV000409490 |
389 | E>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000666603 rs1555244432 |
395 | S>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767774362 RCV000424844 CA6831236 RCV000509385 |
398 | Q>* | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs375931905 RCV001308609 CA6831237 |
399 | R>W | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6831239 RCV000635339 rs369840561 |
400 | L>V | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs556890619 CA6831244 RCV001034855 |
403 | A>T | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000672427 rs1555244455 |
405 | H>missing | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369416846 RCV000673820 CA244495699 |
411 | R>W | Deficiency of butyryl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA386612554 rs1224101583 |
2 | A>V | No |
ClinGen gnomAD |
|
|
CA244512539 rs866904147 |
3 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs866904147 CA244512536 |
3 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA244512546 rs569941838 |
4 | A>E | No |
ClinGen 1000Genomes TOPMed |
|
|
rs945672538 CA244512543 |
4 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386612572 rs569941838 |
4 | A>V | No |
ClinGen 1000Genomes TOPMed |
|
| TCGA novel | 5 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6830729 rs777704501 |
8 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749003413 CA6830730 |
8 | R>P | No |
ClinGen ExAC |
|
|
CA244512560 rs977099936 |
9 | A>T | No |
ClinGen TOPMed |
|
|
CA386612658 rs1426522774 |
12 | P>S | No |
ClinGen gnomAD |
|
|
rs1306073403 CA386612672 |
13 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs542140065 CA386612678 |
14 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937772855 CA244512567 |
14 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs937772855 CA386612685 |
14 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1338857285 CA386612687 |
15 | R>G | No |
ClinGen gnomAD |
|
|
CA386612776 rs147494970 |
16 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386612777 rs1456001532 |
17 | L>I | No |
ClinGen gnomAD |
|
|
CA386612787 rs1320246725 |
18 | C>S | No |
ClinGen gnomAD |
|
|
CA6830750 rs745510897 |
20 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6830751 rs139981498 |
20 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1027993982 CA244513294 |
21 | A>V | No |
ClinGen TOPMed |
|
|
CA6830753 rs774970155 |
22 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6830752 rs774970155 |
22 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs773600043 CA244513323 |
23 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213007752 CA386612819 |
24 | Q>R | No |
ClinGen Ensembl |
|
|
rs1592933314 CA386612825 |
25 | L>V | No |
ClinGen Ensembl |
|
|
rs1206615610 CA386612840 |
27 | T>A | No |
ClinGen gnomAD |
|
|
rs1345023746 CA386612848 |
28 | I>S | No |
ClinGen gnomAD |
|
|
rs766747544 CA6830757 |
31 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6830758 rs774472406 |
33 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386612931 rs1432690819 |
35 | P>S | No |
ClinGen gnomAD |
|
|
CA244513362 rs982006585 |
36 | E>K | No |
ClinGen TOPMed |
|
|
CA386612958 rs1431742956 |
37 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs890271362 CA244513382 |
37 | T>I | No |
ClinGen Ensembl |
|
|
CA386612972 rs1158663321 |
38 | H>Y | No |
ClinGen gnomAD |
|
|
CA6830764 rs764082349 |
39 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA386613002 rs1455658617 |
40 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6830765 rs753707633 |
41 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA6830766 rs143948985 |
42 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779545943 CA6830769 |
47 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779545943 CA244513440 |
47 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771263450 CA6830774 |
54 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6830773 rs749775207 |
54 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488087231 CA386613209 |
55 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 56 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271188770 CA386613222 |
56 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1271188770 CA386613225 |
56 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1396303324 CA386613239 |
57 | A>V | No |
ClinGen TOPMed |
|
|
rs371096896 CA6830776 |
63 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386613311 rs1460499065 |
64 | H>R | No |
ClinGen TOPMed |
|
|
CA244513475 rs377388400 |
65 | L>F | No |
ClinGen TOPMed |
|
|
CA244513484 rs377388400 |
65 | L>I | No |
ClinGen TOPMed |
|
|
CA6830777 rs767778990 |
67 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6830778 rs148789330 |
68 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753758429 RCV000994996 CA386613342 |
70 | Q>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs753758429 CA6830781 |
70 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA386613345 COSM3398439 rs1458910295 |
70 | Q>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 71 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386613923 rs1341210459 |
71 | V>M | No |
ClinGen TOPMed |
|
|
rs1378242579 CA386613932 |
72 | K>N | No |
ClinGen gnomAD |
|
|
rs142476255 CA6830795 |
72 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760948905 CA6830796 |
73 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs768915570 CA6830797 |
74 | M>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6830799 rs774801839 |
76 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386613960 rs1297273673 |
77 | L>F | No |
ClinGen gnomAD |
|
|
CA6830801 rs750210411 |
78 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1064793612 RCV000478485 |
80 | L>missing | No |
ClinVar dbSNP |
|
|
rs746708682 CA6830802 |
82 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386614005 rs751283667 |
84 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6830804 rs751283667 |
84 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449345977 CA386614011 |
85 | P>S | No |
ClinGen gnomAD |
|
|
rs374930037 CA6830807 |
86 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386614043 rs121908005 |
90 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386614044 rs1257535509 |
90 | G>D | No |
ClinGen Ensembl |
|
|
CA386614056 rs1187812728 |
92 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386614059 rs1358146160 |
93 | L>V | No |
ClinGen gnomAD |
|
|
rs772604031 CA6830811 |
94 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6830813 rs369400082 |
95 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386614081 rs1592939374 |
96 | L>R | No |
ClinGen Ensembl |
|
|
CA6830815 rs776607912 |
97 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs946898497 CA244521482 |
98 | Y>C | No |
ClinGen gnomAD |
|
|
rs1278196195 CA386614094 |
99 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769743719 CA6830817 |
100 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA244521505 rs1001298373 RCV000489562 |
101 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA386614115 rs1566027041 |
102 | M>T | No |
ClinGen Ensembl |
|
|
CA6830821 rs751293784 |
103 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6830822 rs759190266 |
104 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA386614134 rs767155955 RCV000492900 |
105 | I>F | No |
ClinGen ClinVar ExAC dbSNP |
|
|
CA6830823 rs767155955 |
105 | I>L | No |
ClinGen ExAC |
|
|
rs1428192214 CA386614143 |
106 | S>I | No |
ClinGen gnomAD |
|
|
CA16619448 rs1064795254 RCV000486356 |
107 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6830824 rs755697930 |
107 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs780571371 CA386614162 |
110 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346210681 CA386614166 |
110 | A>V | No |
ClinGen gnomAD |
|
|
CA386614175 rs1286663721 |
112 | T>N | No |
ClinGen gnomAD |
|
|
CA386614180 rs1286990097 |
113 | G>E | No |
ClinGen gnomAD |
|
|
rs781528570 CA6830829 |
113 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6830830 rs748291332 |
114 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450340167 CA386614183 |
114 | V>I | No |
ClinGen gnomAD |
|
|
rs1267605129 CA386614192 |
115 | I>T | No |
ClinGen gnomAD |
|
|
CA386614189 rs1164358310 |
115 | I>V | No |
ClinGen TOPMed |
|
|
CA6830831 rs533993124 |
116 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1419823755 CA386614199 |
116 | M>T | No |
ClinGen TOPMed |
|
|
rs952640313 CA244521648 |
117 | S>G | No |
ClinGen Ensembl |
|
|
CA386614207 rs1409242138 |
117 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386614214 rs1472292586 |
118 | V>G | No |
ClinGen TOPMed |
|
|
rs1158892238 CA386614225 |
120 | N>D | No |
ClinGen gnomAD |
|
|
rs773156731 CA6830833 |
120 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs372873554 CA6830868 |
121 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1227433768 CA386614263 |
124 | L>R | No |
ClinGen gnomAD |
|
|
rs757369183 CA6830870 |
125 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6830871 rs778961248 |
126 | P>H | No |
ClinGen ExAC |
|
|
rs1320910459 CA386614270 |
126 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 129 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386614308 rs1419266576 |
131 | G>A | No |
ClinGen gnomAD |
|
|
rs745876621 CA6830872 |
132 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA386614325 rs1167687908 |
134 | E>K | No |
ClinGen TOPMed |
|
|
CA244522068 rs956773730 |
135 | Q>E | No |
ClinGen Ensembl |
|
|
CA6830875 rs752677472 |
137 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6830877 rs17848085 |
138 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1376158026 CA386614362 |
139 | W>L | No |
ClinGen gnomAD |
|
|
CA386614366 rs1177384329 |
140 | V>I | No |
ClinGen gnomAD |
|
|
CA6830883 rs375450502 |
142 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386614397 rs1319765630 |
145 | S>I | No |
ClinGen gnomAD |
|
|
rs754128508 CA6830885 |
146 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386614400 rs1343073690 |
146 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1393101803 CA386614411 |
147 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 149 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6830886 rs757458756 |
149 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs368500899 CA386614454 |
154 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386614462 rs1486130163 |
155 | S>N | No |
ClinGen gnomAD |
|
|
CA386614480 rs1265414798 |
158 | G>R | No |
ClinGen gnomAD |
|
|
rs892321574 CA244522595 |
160 | G>S | No |
ClinGen gnomAD |
|
|
rs1323385877 CA386614525 |
163 | A>T | No |
ClinGen gnomAD |
|
|
CA6830915 rs748942415 |
164 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA244522652 rs1009785543 |
164 | G>V | No |
ClinGen Ensembl |
|
|
rs770417119 CA6830916 |
165 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6830918 rs747528760 |
168 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA386614553 rs769085586 |
168 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6830919 rs769085586 |
168 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6830924 rs542838805 |
170 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6830926 rs751618843 |
171 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6830925 rs751618843 |
171 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM396889 CA6830929 rs756016434 |
173 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA244522745 rs960658568 |
175 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA244522778 rs57443665 |
177 | W>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1566027737 CA386614643 |
184 | A>S | No |
ClinGen Ensembl |
|
|
rs1408462903 CA386614661 |
186 | I>N | No |
ClinGen TOPMed |
|
|
CA386614665 rs1592940155 |
187 | T>P | No |
ClinGen Ensembl |
|
|
CA386614671 rs1350264020 |
188 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 189 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369167716 CA386614709 |
193 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386614720 rs985348463 |
195 | A>G | No |
ClinGen Ensembl |
|
|
CA244522846 rs985348463 |
195 | A>V | No |
ClinGen Ensembl |
|
|
rs773564658 CA6830938 |
196 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6830939 rs763087684 |
197 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA386614736 rs1414191910 |
198 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 201 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs547741682 CA386614776 |
204 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767676875 CA6830943 |
204 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs547741682 CA6830944 |
204 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386614784 rs1566027791 |
206 | Q>* | No |
ClinGen Ensembl |
|
|
CA386614805 rs1592940229 |
208 | K>N | No |
ClinGen Ensembl |
|
|
CA386600759 rs896559349 |
211 | S>C | No |
ClinGen gnomAD |
|
|
CA244493805 rs896559349 |
211 | S>R | No |
ClinGen gnomAD |
|
|
rs773170167 CA6831023 |
212 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6831026 rs773962541 |
216 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1472894784 CA386600799 |
217 | M>R | No |
ClinGen TOPMed |
|
|
RCV000895745 CA6831028 rs144815059 |
219 | T>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6831030 rs763667150 |
221 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1289900241 CA386600830 |
223 | T>A | No |
ClinGen gnomAD |
|
|
rs781314751 CA6831036 |
228 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1159976039 CA386600882 |
230 | K>R | No |
ClinGen gnomAD |
|
|
CA386600897 rs1363146614 |
233 | I>L | No |
ClinGen gnomAD |
|
|
CA6831037 rs752882833 |
233 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6831038 rs532174593 |
234 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6831040 rs749242337 |
234 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386600907 rs1288920730 |
235 | G>D | No |
ClinGen TOPMed |
|
|
CA6831041 rs770711544 |
235 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA386600909 rs1288920730 |
235 | G>V | No |
ClinGen TOPMed |
|
|
rs778800901 CA6831042 |
236 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA244493873 rs902931378 |
237 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6831043 rs745602039 |
238 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386600941 rs1479877981 |
241 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs999096493 CA244493887 |
245 | D>A | No |
ClinGen TOPMed |
|
|
CA386600967 rs1405709303 |
245 | D>N | No |
ClinGen TOPMed |
|
|
rs1566028141 CA386600977 |
246 | C>Y | No |
ClinGen Ensembl |
|
|
CA6831046 COSM1181516 rs760389122 |
247 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768292774 CA386600984 |
247 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768292774 CA6831047 |
247 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312216 rs768292774 |
247 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386600999 rs1411971032 |
250 | K>E | No |
ClinGen TOPMed |
|
|
CA386601006 rs763585205 |
251 | D>H | No |
ClinGen ExAC TOPMed |
|
|
rs763585205 CA6831048 |
251 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA386601010 rs1382926332 |
251 | D>V | No |
ClinGen gnomAD |
|
|
rs1351209913 CA386601040 |
256 | E>* | No |
ClinGen gnomAD |
|
|
CA386601038 rs1351209913 |
256 | E>K | No |
ClinGen gnomAD |
|
|
CA386601063 rs1437427433 |
259 | M>I | No |
ClinGen gnomAD |
|
|
CA6831051 rs759856061 |
260 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1400729005 CA386601068 |
260 | G>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 265 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386601121 rs758286855 |
266 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6831078 rs758286855 |
266 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6831079 rs780025369 |
267 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1424182725 CA386601131 |
267 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1424182725 CA386601129 |
267 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1199959186 CA386601133 |
268 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1178136666 CA386601137 |
269 | D>N | No |
ClinGen gnomAD |
|
|
rs370283455 CA6831081 |
270 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6831083 rs769242128 |
273 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs199717731 CA244494137 |
276 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs996621152 CA244494145 |
277 | S>A | No |
ClinGen TOPMed |
|
|
rs764411211 CA6831089 |
277 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1196822118 CA386601191 |
278 | Q>R | No |
ClinGen gnomAD |
|
|
rs776787813 CA6831091 |
279 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762083095 CA6831094 |
281 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1192865643 CA386601205 |
281 | G>S | No |
ClinGen gnomAD |
|
|
rs762083095 CA6831093 |
281 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1419205894 CA386601212 |
282 | I>T | No |
ClinGen gnomAD |
|
|
CA244494199 rs1049666873 |
283 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 283 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201430078 CA244494210 |
284 | Q>* | No |
ClinGen 1000Genomes |
|
|
CA386601223 rs1323132512 |
284 | Q>H | No |
ClinGen gnomAD |
|
|
rs766467061 CA6831096 |
284 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1373305585 CA386601238 |
287 | L>V | No |
ClinGen gnomAD |
|
|
COSM301616 CA6831101 rs567335248 |
288 | D>N | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770406570 CA386601284 |
294 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6831104 rs770406570 |
294 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs747512252 CA6831106 |
297 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA386601307 rs1230933032 |
297 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA386601308 rs1230933032 |
297 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1179159355 CA386601313 |
298 | M>K | No |
ClinGen gnomAD |
|
|
rs1382317439 CA386601329 |
300 | F>S | No |
ClinGen gnomAD |
|
|
rs761970893 CA386601333 CA6831109 |
301 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770009021 CA6831111 |
302 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770009021 CA6831110 |
302 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386601344 rs1327331027 |
303 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1404161620 CA386601348 |
304 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA244494354 rs550921 |
305 | T>S | No |
ClinGen Ensembl |
|
|
rs759485193 CA6831115 |
308 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6831117 rs752500028 |
310 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs757880686 CA386601419 |
312 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223229970 CA386601413 |
312 | F>L | No |
ClinGen TOPMed |
|
|
rs1233243754 CA386601421 |
313 | K>E | No |
ClinGen TOPMed |
|
|
CA6831146 rs781742944 |
313 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6831148 rs756555604 |
318 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756555604 CA386601457 |
318 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6831151 rs771241888 |
324 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386601512 rs1458512843 |
328 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6831154 rs199633532 |
330 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140853839 CA6831152 |
330 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386601533 rs1566028525 |
331 | A>V | No |
ClinGen Ensembl |
|
|
CA6831156 rs761474976 |
332 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1351891683 CA386601551 |
334 | L>P | No |
ClinGen gnomAD |
|
|
rs1478741871 CA386601581 |
338 | K>N | No |
ClinGen gnomAD |
|
|
rs764917783 CA6831158 |
338 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs750045046 CA6831159 |
339 | K>M | No |
ClinGen ExAC |
|
|
CA6831160 rs757992559 |
340 | P>R | No |
ClinGen ExAC |
|
|
rs765789568 CA6831161 |
342 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386601609 rs1359336773 |
343 | K>Q | No |
ClinGen gnomAD |
|
|
CA6831192 rs545598561 |
345 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA312224 rs1555244344 |
347 | M>V | No |
ClinGen Ensembl |
|
|
rs1422936868 CA386601673 |
351 | A>T | No |
ClinGen gnomAD |
|
|
rs781172419 CA6831194 |
351 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6831197 rs202078273 |
352 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA244495188 rs987468270 |
354 | E>K | No |
ClinGen Ensembl |
|
|
COSM1639055 rs1378527596 CA386601702 |
356 | A>V | stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA386601703 rs1592941370 |
357 | T>P | No |
ClinGen Ensembl |
|
|
CA6831202 rs754459133 |
358 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386601709 rs754459133 |
358 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1218367017 CA386601720 |
359 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 364 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA244495342 rs953695669 |
366 | I>M | No |
ClinGen TOPMed |
|
|
CA386601787 rs1433674196 |
368 | G>R | No |
ClinGen gnomAD |
|
|
CA6831223 rs751738987 |
369 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs371934737 CA6831224 |
373 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 374 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 375 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386601842 CA386601844 rs1368965685 |
376 | M>I | No |
ClinGen gnomAD |
|
|
CA244495432 rs995064724 |
377 | P>S | No |
ClinGen Ensembl |
|
|
rs1350780434 CA386601849 |
378 | A>T | No |
ClinGen gnomAD |
|
|
CA386601854 rs1238995213 |
378 | A>V | No |
ClinGen gnomAD |
|
|
CA312236 rs28940875 |
380 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6831227 rs368064268 |
380 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219162519 CA386601866 |
381 | H>Y | No |
ClinGen gnomAD |
|
|
CA386601884 rs1195424097 COSM935964 |
384 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA386601919 rs1195281334 |
389 | E>D | No |
ClinGen TOPMed |
|
|
rs1248673994 CA386601914 |
389 | E>K | No |
ClinGen TOPMed |
|
|
CA6831231 rs773646063 |
390 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA6831232 rs763455552 |
391 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs948685149 CA244495551 |
395 | S>G | No |
ClinGen TOPMed |
|
|
CA386601967 rs1322896033 |
396 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1365321391 CA386601975 |
397 | I>M | No |
ClinGen TOPMed |
|
|
CA386601971 rs1233036235 |
397 | I>V | No |
ClinGen TOPMed |
|
|
rs1592941621 CA386601979 |
398 | Q>L | No |
ClinGen Ensembl |
|
|
rs926187308 CA244495583 |
399 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA244495594 rs369840561 |
400 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6831241 rs757155952 |
401 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs866546417 CA386601989 |
401 | V>L | No |
ClinGen TOPMed |
|
|
rs866546417 CA244495632 |
401 | V>M | No |
ClinGen TOPMed |
|
|
CA386601999 rs374043146 |
402 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000872413 CA6831247 CA386602005 rs545737847 |
404 | G>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs545737847 CA6831246 |
404 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6831248 rs776136316 |
405 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749790770 CA6831249 |
409 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA386602045 rs1414997272 |
410 | Y>C | No |
ClinGen gnomAD |
|
|
rs369416846 CA386602049 |
411 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6831250 rs771419406 |
411 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with P16219
[MIM: 201470]: Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
An inborn error of mitochondrial fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults. {ECO:0000269|PubMed:11134486, ECO:0000269|PubMed:1692038, ECO:0000269|PubMed:9499414}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An inborn error of mitochondrial fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults. {ECO:0000269|PubMed:11134486, ECO:0000269|PubMed:1692038, ECO:0000269|PubMed:9499414}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P16219
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ubiquitin-conjugating enzyme E2 | 402 - 568 | IPR000608 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.3.8.1 | With a flavin as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| acyl-CoA dehydrogenase activity | Catalysis of the reaction: acyl-CoA + oxidized |
| butyryl-CoA dehydrogenase activity | Catalysis of the reaction: butanoyl-CoA + electron-transfer flavoprotein = 2-butenoyl-CoA + reduced electron-transfer flavoprotein. |
| 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. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| butyrate catabolic process | The chemical reactions and pathways resulting in the breakdown of butyrate, the anion of butyric acid. |
| fatty acid beta-oxidation | A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively). |
| fatty acid beta-oxidation using acyl-CoA dehydrogenase | A fatty acid beta-oxidation pathway in which the initial step of each oxidation cycle, which converts an acyl-CoA to a trans-2-enoyl-CoA, is catalyzed by acyl-CoA dehydrogenase; the electrons removed by oxidation pass through the respiratory chain to oxygen and leave H2O as the product. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and ends when only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively). |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3ZBF6 | ACADS | Short-chain specific acyl-CoA dehydrogenase, mitochondrial | Bos taurus (Bovine) | PR |
| P49748 | ACADVL | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | Homo sapiens (Human) | PR |
| Q9DBL1 | Acadsb | Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial | Mus musculus (Mouse) | PR |
| Q07417 | Acads | Short-chain specific acyl-CoA dehydrogenase, mitochondrial | Mus musculus (Mouse) | PR |
| P79273 | ACADS | Short-chain specific acyl-CoA dehydrogenase, mitochondrial | Sus scrofa (Pig) | PR |
| P70584 | Acadsb | Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial | Rattus norvegicus (Rat) | PR |
| P15651 | Acads | Short-chain specific acyl-CoA dehydrogenase, mitochondrial | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAALLARAS | GPARRALCPR | AWRQLHTIYQ | SVELPETHQM | LLQTCRDFAE | KELFPIAAQV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DKEHLFPAAQ | VKKMGGLGLL | AMDVPEELGG | AGLDYLAYAI | AMEEISRGCA | STGVIMSVNN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLYLGPILKF | GSKEQKQAWV | TPFTSGDKIG | CFALSEPGNG | SDAGAASTTA | RAEGDSWVLN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GTKAWITNAW | EASAAVVFAS | TDRALQNKGI | SAFLVPMPTP | GLTLGKKEDK | LGIRGSSTAN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LIFEDCRIPK | DSILGEPGMG | FKIAMQTLDM | GRIGIASQAL | GIAQTALDCA | VNYAENRMAF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GAPLTKLQVI | QFKLADMALA | LESARLLTWR | AAMLKDNKKP | FIKEAAMAKL | AASEAATAIS |
| 370 | 380 | 390 | 400 | 410 | |
| HQAIQILGGM | GYVTEMPAER | HYRDARITEI | YEGTSEIQRL | VIAGHLLRSY | RS |