P30566
PR
Gene name |
ADSL (AMPS) |
Protein name |
Adenylosuccinate lyase |
Names |
ADSL, ASL, Adenylosuccinase, ASase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:158 |
EC number |
4.3.2.2: Lyases acting on amides, amidines, etc |
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 P30566
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2J91 | X-ray | 180 A | A/B/C/D | 1-481 | PDB |
| 2VD6 | X-ray | 200 A | A/B/C/D | 1-481 | PDB |
| 4FFX | X-ray | 270 A | A/B/C/D | 1-484 | PDB |
| 4FLC | X-ray | 260 A | A/B/C/D | 1-484 | PDB |
| AF-P30566-F1 | Predicted | AlphaFoldDB |
441 variants for P30566
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001363283 CA313131 RCV000186704 VAR_016930 rs143083947 |
2 | A>V | Adenylosuccinate lyase deficiency ADSLD; severe [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2044145822 RCV001060867 |
3 | A>G | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_017078 | 3 | A>V | ADSLD; severe [UniProt] | Yes | UniProt |
|
RCV000728371 rs766546584 RCV001363640 CA10247578 |
4 | G>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002518830 RCV000327088 CA10247581 RCV000551429 rs140064577 |
6 | D>H | Adenylosuccinate lyase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA411632590 RCV001338365 rs1314470860 |
6 | D>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs377248090 CA10247585 RCV000436772 RCV001202411 |
7 | H>R | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001044398 RCV000439143 rs368501116 CA10247591 |
11 | D>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs773098808 RCV000697335 CA10247592 |
12 | S>R | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs766465184 RCV001228393 RCV000727459 CA313132 |
14 | R>C | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10247595 RCV000812500 rs371824098 |
14 | R>L | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001317495 CA324447244 rs541051390 |
16 | P>L | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA411632647 rs1262658484 RCV001238846 |
17 | L>F | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM1182115 CA411632693 RCV002529825 COSM1182116 rs1257907226 RCV000634534 |
24 | P>L | Adenylosuccinate lyase deficiency large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
VAR_016931 CA411632704 rs1311171245 COSM478991 COSM478992 |
26 | M>L | kidney ADSLD; severe [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
RCV000431927 CA10247605 RCV002521608 rs780994144 |
34 | Y>C | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1434292876 CA411632761 RCV001325958 |
34 | Y>H | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001220597 CA10247611 rs774435749 |
45 | W>* | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs759704594 RCV001225588 |
47 | A>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411633925 RCV000692090 rs1380095056 |
52 | T>K | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002284461 CA10247639 rs765813625 RCV001061282 |
54 | G>D | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000798632 CA411634146 rs1601551862 |
61 | Q>H | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA313127 RCV000186700 rs796052251 RCV002513974 |
66 | K>I | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804581 CA10247645 rs200169254 |
69 | L>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_007972 | 72 | I>V | ADSLD; severe [UniProt] | Yes | UniProt |
|
COSM273904 rs745787396 COSM273905 RCV002549987 RCV000997933 CA10247648 |
73 | D>N | Variant assessed as Somatic; 0.0 impact. Adenylosuccinate lyase deficiency large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs145306334 RCV001318656 CA324449265 |
76 | M>L | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
rs780425464 RCV000527728 CA241261 RCV000723817 |
83 | R>C | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000434653 rs1036185928 RCV000679862 CA16608180 |
85 | R>* | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001312757 rs1327764464 CA411634805 |
86 | H>Q | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001224951 rs2044280567 |
86 | H>R | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207291 rs149165656 CA313129 RCV000186702 |
88 | V>A | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA411634883 RCV000995690 rs1601552154 |
90 | A>T | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001244507 CA411634902 rs755518176 |
91 | H>D | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000764386 RCV000419456 CA10247658 rs755518176 |
91 | H>Y | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs119450942 VAR_017079 RCV000002567 CA115566 |
100 | P>A | Adenylosuccinate lyase deficiency ADSLD; moderate [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs374259530 RCV000193076 RCV000415212 RCV002513975 VAR_017080 RCV000186703 CA206321 |
114 | Y>H | Adenylosuccinate lyase deficiency Inborn genetic diseases ADSLD; severe; total loss of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001058729 rs768596079 CA10247666 |
116 | G>E | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001228244 rs2044410316 |
122 | I>M | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001228245 rs2044410415 |
124 | L>I | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771267221 RCV001035904 CA313136 RCV000186707 |
126 | N>S | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000696779 CA411638812 rs1569091418 |
136 | A>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001300027 rs563054392 |
141 | R>P | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000415081 CA313144 VAR_007973 RCV000186711 rs756210458 RCV001049471 |
141 | R>W | Variant assessed as Somatic; 0.0 impact. Adenylosuccinate lyase deficiency ADSLD; severe [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs746180694 RCV001330906 CA10247725 |
147 | K>E | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000441107 RCV000284062 VAR_037884 rs11089991 RCV000116239 CA288669 |
147 | K>M | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10247727 RCV001220104 rs747546394 |
149 | R>Q | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs147194356 RCV000799764 CA324453005 |
151 | S>G | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV001323574 rs2044467047 |
155 | L>S | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207292 CA411639207 rs1310213333 |
159 | H>Y | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001308467 rs8192457 RCV000186708 CA313138 |
161 | Q>R | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001330907 CA411640439 RCV001509099 rs1385675650 |
168 | V>I | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs768542145 RCV000634532 CA411640767 |
181 | M>L | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10247754 RCV000700498 rs768542145 |
181 | M>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1569096551 CA411640840 RCV000707388 |
184 | Q>* | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs761937276 RCV000473273 CA10247756 RCV000432475 |
188 | R>H | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000186710 CA313142 rs750614500 RCV000763484 |
190 | R>* | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_007974 rs28941471 CA115568 RCV000186674 RCV000002569 |
190 | R>Q | Adenylosuccinate lyase deficiency ADSLD; moderate [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2044667301 RCV001150920 |
193 | L>P | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1465152683 CA411641054 VAR_017081 |
194 | R>C | ADSLD; severe; reduces protein stability [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
CA10247760 rs755359802 RCV000634539 RCV001269550 |
194 | R>H | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753245184 CA10247762 RCV001330908 RCV000442215 |
196 | R>Q | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs376533106 CA10247761 RCV000704389 |
196 | R>W | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001055322 rs2044668344 |
203 | G>D | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745524617 RCV000804178 CA411641253 |
204 | T>S | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs746848060 RCV001336062 CA10247767 |
206 | A>G | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001082607 RCV000186675 rs148411623 CA313090 RCV000766357 |
206 | A>S | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000824613 CA10247769 rs776615568 |
208 | F>Y | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001237538 rs2044669605 |
211 | L>H | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000186672 CA245884 rs199761158 RCV001080646 RCV000230022 |
217 | H>D | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA411641524 RCV000797767 rs199761158 |
217 | H>Y | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000552936 rs1555907605 CA411641687 |
219 | V>I | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555907605 RCV001303310 |
219 | V>L | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs119450945 CA115570 RCV000002572 |
225 | M>T | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411642556 RCV000990446 rs1601586359 |
242 | T>I | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs374047157 CA10247801 RCV000767889 |
245 | R>Q | Variant assessed as Somatic; 0.0 impact. Adenylosuccinate lyase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_007975 CA115569 RCV000002570 rs119450944 RCV002280090 |
246 | K>E | Adenylosuccinate lyase deficiency ADSLD; moderate; strongly reduced catalytic activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000552133 rs775115015 CA10247806 |
257 | S>G | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411642789 rs1601586537 RCV000797966 |
260 | A>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001206286 rs2044740915 |
262 | V>A | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_017082 CA10247835 rs746501563 |
268 | D>N | Variant assessed as Somatic; 0.0 impact. ADSLD; severe; total loss of activity [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10247836 rs759104126 RCV000498307 RCV000706115 |
269 | I>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10247839 RCV000402231 rs181252862 |
270 | R>C | Variant assessed as Somatic; 0.0 impact. Adenylosuccinate lyase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10247840 rs760189192 RCV001225335 |
270 | R>H | Variant assessed as Somatic; 0.0 impact. Adenylosuccinate lyase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001338123 rs962521087 |
273 | A>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219514 rs2044778052 |
278 | M>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062284 rs371529148 |
281 | P>L | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002535467 rs371529148 RCV000818257 CA10247843 |
281 | P>R | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
CA324458282 rs796052246 RCV001062077 |
285 | Q>E | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2044779637 RCV001340795 |
285 | Q>R | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10247845 RCV001853643 RCV000521719 rs376912453 |
286 | Q>E | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2044788172 RCV001220741 |
290 | S>N | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2044788378 RCV001150923 |
291 | A>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001721189 RCV000540883 rs8192461 CA313101 |
294 | Y>H | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs755059672 CA10247866 RCV000728589 RCV000553354 |
296 | R>Q | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002527600 RCV001814999 rs536254357 CA10247865 RCV001350739 RCV000521643 |
296 | R>W | Adenylosuccinate lyase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA411643920 rs1364564756 RCV000808407 |
299 | M>T | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000710485 rs34396910 CA247928 RCV001087090 |
299 | M>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA411643943 RCV000634537 rs369617680 |
300 | R>C | Variant assessed as Somatic; 0.0 impact. Adenylosuccinate lyase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
rs864309550 RCV001220450 RCV000202823 CA249024 |
300 | R>H | Variant assessed as Somatic; 0.0 impact. Adenylosuccinate lyase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA324458491 rs369617680 RCV000498255 RCV001857014 |
300 | R>S | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs373458753 RCV000727198 CA10247868 VAR_007976 RCV000293106 |
303 | R>C | Adenylosuccinate lyase deficiency ADSLD; mild; strongly reduced activity with SAMP, but only slightly reduced activity with SAICAR; abolishes cooperativity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1006262492 RCV000473217 CA16616389 |
306 | S>G | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2044790556 RCV001208135 |
307 | L>F | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376357524 RCV000764387 CA313103 RCV000186683 |
309 | R>C | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000465601 CA10247869 RCV000443295 rs749817666 |
309 | R>H | Variant assessed as Somatic; 0.0 impact. Adenylosuccinate lyase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| VAR_017083 | 311 | L>V | ADSLD; severe; slightly reduced enzyme activity [UniProt] | Yes | UniProt |
|
CA411644150 rs1282382248 RCV001266880 |
312 | M>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001262431 rs2044791557 |
316 | M>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA313105 RCV000278336 RCV000186684 rs202064195 VAR_017084 |
318 | P>L | Adenylosuccinate lyase deficiency ADSLD; severe [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001043302 CA411644372 rs1243449413 |
321 | T>I | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2044792794 RCV001050339 |
326 | W>* | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411644471 rs1224557562 RCV001304564 |
326 | W>C | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
rs370221257 RCV001312484 CA10247871 |
329 | R>C | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001042231 CA10247872 rs768203123 RCV000726396 |
329 | R>H | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776496275 RCV000190501 CA351469 RCV000990447 |
332 | D>H | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs761493155 CA313099 RCV001209833 RCV000186680 |
337 | R>* | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000484518 RCV001302302 rs772974251 CA10247891 RCV002526952 |
339 | I>N | Adenylosuccinate lyase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10247893 RCV001251876 rs770755205 |
341 | L>S | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10247894 RCV000810822 rs774159147 |
343 | E>K | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10247897 RCV001201984 rs752735865 |
348 | A>T | Variant assessed as Somatic; 0.0 impact. Adenylosuccinate lyase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10247898 rs151095874 RCV001294247 |
351 | I>M | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA239081 RCV000432959 RCV000634536 rs75953451 |
354 | T>A | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001857600 RCV000186686 rs752238667 CA313106 |
354 | T>M | Adenylosuccinate lyase deficiency Variant assessed as Somatic; 4.619e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA10247905 rs370851726 VAR_017085 |
364 | V>M | Variant assessed as Somatic; 0.0 impact. ADSLD; severe [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA324459346 rs879257322 RCV000760928 RCV002536581 |
365 | Y>* | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs755688868 RCV000335846 CA10247923 |
369 | I>T | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA220242 RCV000697137 RCV000723724 rs192303222 |
371 | R>Q | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002221554 rs777359946 CA324460176 RCV000544204 |
371 | R>W | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000186688 CA313108 RCV000467182 rs150228971 |
372 | R>H | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000696185 rs778401578 CA10247927 |
372 | R>S | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10247930 RCV000483104 rs568567422 RCV000634533 |
374 | R>Q | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000821230 CA10247929 rs376533026 RCV000427780 VAR_017086 |
374 | R>W | Adenylosuccinate lyase deficiency ADSLD; severe [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001852436 RCV000186689 CA313110 rs796052247 |
376 | E>D | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1601596522 RCV000990448 |
386 | I>missing | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001351733 CA10247936 RCV000412930 rs766782678 |
389 | M>I | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_007977 | 395 | S>R | ADSLD; severe [UniProt] | Yes | UniProt |
|
RCV001203918 rs2044916556 |
396 | R>missing | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10247938 rs755492501 VAR_017087 RCV001268745 RCV001039703 |
396 | R>C | Adenylosuccinate lyase deficiency ADSLD; severe; abolishes cooperativity and reduces enzyme activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_017088 CA313112 RCV000779373 rs763542069 RCV000186690 |
396 | R>H | Variant assessed as Somatic; 0.0 impact. Adenylosuccinate lyase deficiency ADSLD; severe; abolishes cooperativity and reduces enzyme activity [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000174209 RCV001363767 CA239717 rs754714101 |
403 | I>L | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000556894 CA10247964 rs781253590 |
404 | R>S | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411647739 RCV000795626 rs1196254689 |
411 | A>T | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10247967 RCV001039736 rs571597579 |
412 | S>F | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10247971 rs774693972 RCV001144829 |
418 | G>E | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001338975 rs372650859 CA10247970 |
418 | G>R | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000300825 rs886057505 CA10651311 |
419 | G>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2044942817 RCV001309060 |
420 | D>N | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA313113 RCV000537481 rs145750778 RCV000186691 |
421 | N>S | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA115567 RCV000002568 VAR_017089 rs119450943 |
422 | D>Y | Adenylosuccinate lyase deficiency ADSLD; moderate [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
| VAR_017090 | 423 | L>V | ADSLD; moderate [UniProt] | Yes | UniProt |
|
RCV000186692 RCV001253786 CA313115 rs796052248 |
426 | R>C | Adenylosuccinate lyase deficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs119450941 RCV002512680 RCV000002566 RCV000186693 CA115565 RCV000190501 VAR_007978 |
426 | R>H | Adenylosuccinate lyase deficiency Inborn genetic diseases ADSLD; severe; most frequent mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000435716 rs758241731 RCV000696181 CA10247974 |
427 | I>V | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs554254383 RCV001971049 CA313117 VAR_017091 |
430 | D>N | Adenylosuccinate lyase deficiency ADSLD; mild [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000725224 CA313118 rs200814886 RCV001489163 RCV000186695 |
431 | A>T | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000002565 VAR_000680 rs119450940 CA115564 |
438 | S>P | Adenylosuccinate lyase deficiency ADSLD; severe [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs755964863 RCV000726681 RCV000785042 CA10247979 |
446 | P>H | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000437111 RCV002522468 CA10247980 rs749427506 |
447 | S>F | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000763485 rs777821034 RCV000186696 CA313120 VAR_017092 |
447 | S>P | Adenylosuccinate lyase deficiency ADSLD; severe [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000822391 CA411648622 rs1265053994 |
448 | S>C | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000526230 RCV002516223 CA10247981 rs771121666 RCV000224729 |
448 | S>P | Adenylosuccinate lyase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000186709 RCV001036968 rs796052252 |
448 | S>missing | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372895468 CA313145 VAR_016932 RCV001781543 RCV000186712 |
450 | T>S | Adenylosuccinate lyase deficiency ADSLD; moderate [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs572438339 RCV001144830 |
452 | R>C | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000634538 rs775671027 CA10247984 |
452 | R>H | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_017093 | 452 | R>P | ADSLD; severe [UniProt] | Yes | UniProt |
|
rs2044948939 RCV001313022 |
453 | A>D | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA324460884 rs1011687452 RCV001048058 |
455 | Q>H | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA411649151 rs1569104977 RCV000767890 |
465 | V>L | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000688125 RCV000438014 CA16609100 rs1057521071 |
467 | P>R | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs768999974 CA411649238 RCV000634535 |
469 | L>I | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA313123 RCV000727388 RCV001313688 rs796052250 |
480 | A>G | Adenylosuccinate lyase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA324447103 rs143083947 |
2 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143083947 CA411632569 |
2 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411632570 rs1389806424 |
3 | A>T | No |
ClinGen gnomAD |
|
|
CA411632583 rs1369633328 |
5 | G>C | No |
ClinGen TOPMed |
|
|
CA10247583 rs756636478 |
6 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10247582 rs140064577 |
6 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10247584 rs778590882 |
7 | H>D | No |
ClinGen ExAC |
|
|
rs540597292 CA10247587 |
8 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10247586 rs143916630 |
8 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143916630 CA411632599 |
8 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411632601 rs540597292 |
8 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1464501240 CA411632607 |
9 | S>L | No |
ClinGen gnomAD |
|
|
rs768340455 CA411632609 |
10 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA10247588 rs768340455 |
10 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs8192454 CA324447215 |
11 | D>E | No |
ClinGen Ensembl |
|
|
CA411632613 rs761759515 |
11 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10247590 rs761759515 |
11 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1157597276 CA411632629 |
13 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1157597276 CA411632630 |
13 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA10247594 rs371824098 |
14 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411632640 rs1395161415 |
15 | S>* | No |
ClinGen gnomAD |
|
|
rs753065207 CA10247597 |
16 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226271430 CA411632650 |
17 | L>P | No |
ClinGen gnomAD |
|
|
rs1555903913 RCV000521253 CA411632662 |
19 | S>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA324447250 rs914054348 |
21 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs778466007 CA10247599 |
22 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754349909 CA10247600 |
24 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757904153 CA10247601 |
25 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757904153 CA411632695 |
25 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10247602 rs779612414 |
26 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324447263 rs1047091890 |
27 | C>Y | No |
ClinGen TOPMed |
|
|
CA324447270 rs5757921 VAR_037883 |
31 | S>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA10247604 rs768305498 |
31 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 32 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180410315 CA411632753 |
33 | R>G | No |
ClinGen gnomAD |
|
|
CA324447276 rs905413676 |
37 | R>Q | No |
ClinGen Ensembl |
|
|
rs747976292 CA10247606 |
38 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747976292 CA313134 RCV000186706 |
38 | T>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs937020190 CA324447296 |
40 | R>Q | No |
ClinGen Ensembl |
|
|
CA411632801 rs1308263422 |
40 | R>W | No |
ClinGen gnomAD |
|
|
rs1419495577 CA411632807 |
41 | Q>P | No |
ClinGen TOPMed |
|
|
CA10247609 rs770916318 |
43 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299034745 CA411632852 |
45 | W>* | No |
ClinGen gnomAD |
|
|
rs1233609498 CA411632867 |
46 | L>Q | No |
ClinGen gnomAD |
|
|
CA10247612 rs759704594 |
47 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs767809983 CA10247613 |
48 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10247614 rs752938873 |
49 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA411632907 rs752938873 |
49 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10247616 rs764542443 |
50 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1193437955 CA411632926 |
51 | Q>* | No |
ClinGen gnomAD |
|
|
CA411633927 rs1380095056 |
52 | T>I | No |
ClinGen gnomAD |
|
|
rs750871310 CA10247641 |
57 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750871310 CA10247640 |
57 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324449222 rs544172142 |
58 | T>I | No |
ClinGen 1000Genomes |
|
|
rs1231042271 CA411634093 |
59 | D>G | No |
ClinGen TOPMed |
|
|
rs1601551857 CA411634119 |
60 | E>D | No |
ClinGen Ensembl |
|
|
rs1334603251 CA411634097 |
60 | E>K | No |
ClinGen gnomAD |
|
|
CA411634202 rs1270510045 |
64 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10247643 rs752349207 |
66 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs200169254 CA411634344 |
69 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417865183 CA411634394 |
71 | N>D | No |
ClinGen gnomAD |
|
|
CA10247647 rs145786986 |
72 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772345709 CA10247649 |
75 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM278688 CA10247650 rs775646855 COSM278687 |
77 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1064794245 CA16621123 RCV000484388 |
80 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs768958353 CA10247652 |
82 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776685935 CA10247653 |
82 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765503061 CA10247654 |
83 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10247655 rs540648461 |
85 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1329100297 CA411634853 |
88 | V>L | No |
ClinGen gnomAD |
|
|
rs897772935 CA324449298 |
89 | M>V | No |
ClinGen TOPMed |
|
|
rs763852823 CA10247660 |
92 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757135310 CA10247662 |
97 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA411635061 rs1161372043 |
98 | C>Y | No |
ClinGen TOPMed |
|
|
rs1472861156 CA411635107 |
99 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 101 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411635153 rs1409455999 |
101 | K>R | No |
ClinGen gnomAD |
|
|
rs369139561 CA10247663 |
102 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA241263 rs761359362 RCV000175510 |
103 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs905003988 CA324449350 |
108 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10247664 rs758355156 |
111 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 112 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416181188 CA411635442 |
113 | C>S | No |
ClinGen gnomAD |
|
|
rs1035500320 CA324449359 |
114 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1035500320 CA411635474 |
114 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA411635503 rs1569086961 |
115 | V>I | No |
ClinGen Ensembl |
|
|
CA411635547 rs768596079 |
116 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1239032841 CA411635603 |
119 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768217316 CA10247690 |
133 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768217316 CA324451859 |
133 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs775948703 CA10247691 |
134 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10247717 rs773964967 RCV001698216 |
136 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA10247719 rs767397881 |
137 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA324452894 rs999349541 |
138 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 138 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411638883 rs756210458 |
141 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563054392 CA324452913 |
141 | R>Q | No |
ClinGen 1000Genomes |
|
|
rs1177667326 CA411638902 |
142 | L>F | No |
ClinGen gnomAD |
|
|
rs764157818 CA10247721 |
143 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA411638931 rs1433787625 |
143 | A>V | No |
ClinGen gnomAD |
|
|
CA411638943 rs1439661176 |
144 | D>A | No |
ClinGen gnomAD |
|
|
CA10247723 rs757413931 |
144 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780482118 CA411639038 |
149 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780482118 CA10247726 |
149 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747546394 CA411639046 |
149 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1569091610 CA411639105 |
153 | P>H | No |
ClinGen Ensembl |
|
|
CA324453010 rs916536706 |
153 | P>S | No |
ClinGen TOPMed |
|
|
rs745533324 CA10247750 |
162 | P>R | No |
ClinGen ExAC |
|
|
rs775392568 CA324456271 |
164 | Q>R | No |
ClinGen Ensembl |
|
|
CA411640428 rs1208751169 |
167 | T>A | No |
ClinGen gnomAD |
|
|
CA10247752 rs775298300 |
171 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10247753 rs760629234 |
171 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA411640630 rs1414278666 |
177 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 179 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 179 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1016640573 CA324456297 |
180 | C>Y | No |
ClinGen TOPMed |
|
|
rs776521574 CA10247755 |
182 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA411640932 rs371892194 |
188 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA324456304 rs371892194 |
188 | R>S | No |
ClinGen ESP gnomAD |
|
|
rs754005223 CA10247758 |
192 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs753245184 CA10247763 |
196 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411641087 rs1229545881 |
197 | G>R | No |
ClinGen gnomAD |
|
|
rs778422871 CA10247764 |
198 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745524617 CA10247765 |
204 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148411623 CA10247766 |
206 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369400468 CA10247768 |
207 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410270058 CA411641342 |
210 | Q>* | No |
ClinGen gnomAD |
|
|
CA10247770 rs373777376 |
211 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1359908681 CA411641417 |
212 | F>S | No |
ClinGen gnomAD |
|
|
rs376751756 CA324456481 |
213 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1311483271 CA411641481 |
215 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA411641466 rs1231929479 |
215 | D>N | No |
ClinGen TOPMed |
|
|
CA411641731 rs1442075825 |
221 | Q>H | No |
ClinGen gnomAD |
|
|
CA411641836 rs1203944927 |
225 | M>I | No |
ClinGen TOPMed |
|
|
CA10247786 rs748105288 |
234 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1474773631 CA411642377 |
235 | A>G | No |
ClinGen TOPMed |
|
|
rs754574998 CA10247799 |
240 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411642624 rs1432553646 |
248 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1222132067 CA411642686 |
251 | V>I | No |
ClinGen TOPMed |
|
|
CA10247803 rs777822535 |
253 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749180603 CA10247804 |
254 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA411642739 rs1324678680 |
255 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 256 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10247807 rs746114979 |
257 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78915065 CA324457631 |
258 | L>F | No |
ClinGen Ensembl |
|
|
CA313093 rs796052244 RCV000186677 |
259 | G>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 260 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411642783 rs1338876500 |
260 | A>S | No |
ClinGen TOPMed |
|
|
CA411642813 rs1396380736 |
262 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs367719924 CA411643489 |
267 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs367719924 CA324458216 |
267 | T>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA324458223 rs746501563 |
268 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411643504 rs1356087339 |
269 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
rs767008067 CA10247838 |
269 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA411643506 rs1356087339 |
269 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA411643528 rs1242511643 |
272 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs962521087 CA324458250 |
273 | A>E | No |
ClinGen Ensembl |
|
|
RCV000186678 CA313095 rs796052245 |
276 | K>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs763973471 CA10247841 |
277 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs2735668 CA10247842 CA324458253 |
278 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA411643622 rs1376233325 |
280 | E>K | No |
ClinGen gnomAD |
|
|
CA10247844 rs779046571 |
283 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA313097 rs796052246 RCV000186679 |
285 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA411643696 rs1421149336 |
286 | Q>R | No |
ClinGen TOPMed |
|
|
CA411643705 rs1209918065 |
287 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776328750 CA10247860 |
288 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776328750 CA411643756 |
288 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411643765 rs1477530482 |
289 | S>L | No |
ClinGen gnomAD |
|
|
CA10247863 rs750393308 |
292 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462921406 CA411643819 |
294 | Y>C | No |
ClinGen gnomAD |
|
|
CA411643993 rs1235670046 |
303 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA324458527 rs944719713 |
316 | M>T | No |
ClinGen TOPMed |
|
|
rs1015585763 CA324458531 |
318 | P>T | No |
ClinGen Ensembl |
|
|
CA411644358 rs1375565387 |
321 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA324458545 rs1030520987 |
322 | A>V | No |
ClinGen Ensembl |
|
|
CA411644440 rs1484677062 |
325 | Q>R | No |
ClinGen gnomAD |
|
|
CA411644466 rs1224557562 |
326 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA324458549 rs79075278 |
335 | A>S | No |
ClinGen 1000Genomes |
|
|
rs1411730717 CA411644712 |
337 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411644694 rs1411730717 |
337 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 338 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA324459254 rs1046009538 |
338 | R>P | No |
ClinGen gnomAD |
|
|
CA411645487 rs1046009538 |
338 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769607090 CA10247890 |
338 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10247892 rs762710500 |
339 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257953037 CA411645807 |
353 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 356 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779273839 CA10247901 |
358 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10247903 rs758895348 |
363 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 363 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375375168 CA10247902 |
363 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10247906 rs769412149 |
365 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA411646086 rs1395622939 |
365 | Y>H | No |
ClinGen gnomAD |
|
|
rs752104617 CA10247922 |
369 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs267606256 CA324460160 |
370 | E>K | No |
ClinGen Ensembl |
|
|
CA10247925 rs777359946 |
371 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778401578 CA10247926 |
372 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10247928 rs775475956 |
373 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA411646391 rs775475956 |
373 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA411646421 RCV000520476 rs1555908924 |
375 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 376 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10247932 rs761764731 |
379 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs949264068 CA324460270 |
380 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs368160421 CA324460268 |
380 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs765543265 CA10247933 |
383 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1342369707 CA411646603 |
385 | I>V | No |
ClinGen gnomAD |
|
|
rs773289988 CA10247934 |
386 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264910912 CA411646643 |
387 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10247935 rs763475264 |
389 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1488128534 CA411646738 |
391 | K>N | No |
ClinGen gnomAD |
|
|
CA411646731 rs1284336044 |
391 | K>T | No |
ClinGen gnomAD |
|
|
rs1189307119 CA411646742 |
392 | A>T | No |
ClinGen gnomAD |
|
|
CA411646767 rs1232314116 |
393 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs753430039 CA10247939 |
397 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA411646823 rs1455036976 |
397 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411647502 rs1156526707 |
400 | H>R | No |
ClinGen Ensembl |
|
|
rs1235290993 CA411647530 |
401 | E>G | No |
ClinGen gnomAD |
|
|
CA411647556 rs754714101 |
403 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1230961657 CA411647623 |
406 | L>R | No |
ClinGen TOPMed |
|
|
rs747964752 CA10247965 |
408 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs542937686 CA10247966 |
410 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10247968 rs571597579 |
412 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903213714 CA324460688 |
414 | V>A | No |
ClinGen TOPMed |
|
|
rs776070877 CA10247972 |
424 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs762422248 CA10247975 |
427 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA324460759 rs372051078 |
429 | V>A | No |
ClinGen Ensembl |
|
|
rs754803189 CA324460794 |
432 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754803189 CA10247976 |
432 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411648332 rs1413068835 |
435 | P>A | No |
ClinGen TOPMed |
|
|
rs1217328076 CA411648342 |
435 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411648341 rs1217328076 |
435 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA324460805 rs61755965 |
436 | I>M | No |
ClinGen Ensembl |
|
|
CA411648351 rs1399976858 |
436 | I>S | No |
ClinGen TOPMed |
|
|
rs1601598138 CA411648379 |
437 | H>Q | No |
ClinGen Ensembl |
|
|
rs752702384 CA10247978 |
441 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA411648563 rs1569103678 |
446 | P>T | No |
ClinGen Ensembl |
|
|
rs368990043 CA324460849 |
449 | F>S | No |
ClinGen ESP |
|
|
rs372895468 CA324460860 |
450 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324460864 rs377120302 |
451 | G>D | No |
ClinGen ESP gnomAD |
|
|
rs377120302 CA411648696 |
451 | G>V | No |
ClinGen ESP gnomAD |
|
|
CA10247983 rs572438339 |
452 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA324460868 rs572438339 |
452 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1348402340 CA411648756 |
454 | S>F | No |
ClinGen gnomAD |
|
|
CA411648967 rs1351024151 |
457 | V>A | No |
ClinGen gnomAD |
|
|
CA10248004 rs747385959 |
457 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1427224642 CA411649026 |
461 | L>S | No |
ClinGen TOPMed |
|
|
CA411649036 rs1215682292 |
462 | E>K | No |
ClinGen gnomAD |
|
|
rs924338136 CA324461733 |
464 | E>D | No |
ClinGen Ensembl |
|
|
RCV000186697 rs796052249 CA313121 |
464 | E>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA411649166 rs1601601820 |
465 | V>G | No |
ClinGen Ensembl |
|
|
CA411649194 rs1444125229 |
467 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 468 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768999974 CA10248005 |
469 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1057521795 CA16608676 RCV000442330 |
472 | Y>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA411649342 rs1399210283 |
473 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA411649370 rs1158489609 |
475 | V>M | No |
ClinGen gnomAD |
|
|
CA10248009 rs773810168 |
476 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10248008 rs377758918 |
476 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10248010 rs759053684 |
478 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA753185253 rs1189712731 |
482 | L>* | No |
ClinGen TOPMed |
|
|
rs767124073 RCV000186699 CA313125 |
483 | C>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA324461771 rs371242331 |
483 | C>Y | No |
ClinGen ESP TOPMed |
|
|
rs775193778 CA10248011 |
484 | L>P | No |
ClinGen ExAC gnomAD |
1 associated diseases with P30566
[MIM: 103050]: Adenylosuccinase deficiency (ADSLD)
An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. {ECO:0000269|PubMed:10090474, ECO:0000269|PubMed:10888601, ECO:0000269|PubMed:10958654, ECO:0000269|PubMed:12368987, ECO:0000269|PubMed:12833398, ECO:0000269|PubMed:1302001, ECO:0000269|PubMed:19405474, ECO:0000269|PubMed:22812634, ECO:0000269|PubMed:9266401, ECO:0000269|PubMed:9545543}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. {ECO:0000269|PubMed:10090474, ECO:0000269|PubMed:10888601, ECO:0000269|PubMed:10958654, ECO:0000269|PubMed:12368987, ECO:0000269|PubMed:12833398, ECO:0000269|PubMed:1302001, ECO:0000269|PubMed:19405474, ECO:0000269|PubMed:22812634, ECO:0000269|PubMed:9266401, ECO:0000269|PubMed:9545543}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 4.3.2.2 | Lyases acting on amides, amidines, etc |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity | Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide. |
| identical protein binding | Binding to an identical protein or proteins. |
| N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity | Catalysis of the reaction: N6-(1,2-dicarboxyethyl)AMP = fumarate + AMP. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| 'de novo' AMP biosynthetic process | The chemical reactions and pathways resulting in the formation of adenosine monophosphate (AMP) from inosine 5'-monophosphate (IMP). |
| 'de novo' IMP biosynthetic process | The chemical reactions and pathways resulting in the formation of IMP, inosine monophosphate, by the stepwise assembly of a purine ring on ribose 5-phosphate. |
| 'de novo' XMP biosynthetic process | The chemical reactions and pathways resulting in the formation of XMP, xanthosine monophosphate, from simpler precursors. |
| aerobic respiration | The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor. |
| AMP biosynthetic process | The chemical reactions and pathways resulting in the formation of AMP, adenosine monophosphate. |
| AMP salvage | The chemical reactions and pathways resulting in the formation of adenosine monophosphate (AMP) from derivatives of it (either adenine, ADP or adenosine 3',5'-bisphosphate) without de novo synthesis. |
| GMP biosynthetic process | The chemical reactions and pathways resulting in the formation of GMP, guanosine monophosphate. |
| purine nucleotide biosynthetic process | The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. |
| response to hypoxia | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| response to muscle activity | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muscle activity stimulus. |
| response to nutrient | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. |
| response to starvation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a starvation stimulus, deprivation of nourishment. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAGGDHGSP | DSYRSPLASR | YASPEMCFVF | SDRYKFRTWR | QLWLWLAEAE | QTLGLPITDE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QIQEMKSNLE | NIDFKMAAEE | EKRLRHDVMA | HVHTFGHCCP | KAAGIIHLGA | TSCYVGDNTD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LIILRNALDL | LLPKLARVIS | RLADFAKERA | SLPTLGFTHF | QPAQLTTVGK | RCCLWIQDLC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MDLQNLKRVR | DDLRFRGVKG | TTGTQASFLQ | LFEGDDHKVE | QLDKMVTEKA | GFKRAFIITG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QTYTRKVDIE | VLSVLASLGA | SVHKICTDIR | LLANLKEMEE | PFEKQQIGSS | AMPYKRNPMR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SERCCSLARH | LMTLVMDPLQ | TASVQWFERT | LDDSANRRIC | LAEAFLTADT | ILNTLQNISE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLVVYPKVIE | RRIRQELPFM | ATENIIMAMV | KAGGSRQDCH | EKIRVLSQQA | ASVVKQEGGD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NDLIERIQVD | AYFSPIHSQL | DHLLDPSSFT | GRASQQVQRF | LEEEVYPLLK | PYESVMKVKA |
| ELCL |