P00966
PR
Gene name |
ASS1 |
Protein name |
Argininosuccinate synthase |
Names |
Citrulline--aspartate ligase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:445 |
EC number |
6.3.4.5: Other carbon--nitrogen ligases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for P00966
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2NZ2 | X-ray | 240 A | A | 1-412 | PDB |
| AF-P00966-F1 | Predicted | AlphaFoldDB |
432 variants for P00966
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1057516960 RCV000411464 |
1 | M>I | Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000665063 rs750780742 |
1 | M>V | Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325018 rs1845344324 |
3 | S>N | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA312354 RCV002516963 rs201700775 RCV002516962 RCV001166546 |
5 | G>A | Citrullinemia type I Citrullinemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000706172 RCV001580540 CA5283127 RCV002536405 rs149938546 RCV001553607 |
7 | V>M | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1845345016 RCV001044877 |
10 | A>P | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_000681 RCV000006696 CA253829 RCV001376548 rs121908636 |
14 | G>S | Citrullinemia type I Citrullinemia CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000006703 RCV002512847 CA253836 rs121908643 VAR_000682 |
18 | S>L | Citrullinemia type I Citrullinemia CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
| VAR_015891 | 19 | C>R | CTLN1 [UniProt] | Yes | UniProt |
| VAR_078387 | 27 | Q>del | CTLN1 [UniProt] | Yes | UniProt |
|
CA375223632 rs1457270102 RCV001297859 |
29 | Y>C | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_058337 | 40 | Q>L | CTLN1 [UniProt] | Yes | UniProt |
|
RCV002233957 rs1554982237 |
41 | K>missing | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247594 rs374695792 RCV002241806 CA5283163 |
48 | R>G | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs142350255 RCV001351742 CA5283165 RCV001831176 |
51 | A>T | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs1564902078 RCV002233353 CA375223842 RCV000701082 |
54 | L>V | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000668829 rs1554982243 |
59 | V>missing | Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000669936 rs556297791 CA5283195 VAR_078388 RCV001363462 |
64 | V>I | Citrullinemia Citrullinemia type I CTLN1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
VAR_016013 CA5283197 rs771594651 |
69 | V>A | CTLN1 [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV000666531 rs1554982824 CA375224971 RCV002530687 |
72 | F>L | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000411227 rs1057516648 |
76 | A>missing | Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_058338 | 79 | S>P | CTLN1 [UniProt] | Yes | UniProt |
|
CA5283205 RCV000303779 RCV002230204 rs141640176 |
81 | A>T | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5283207 rs559043503 RCV000812699 |
82 | L>P | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5283209 RCV001295009 RCV001830121 rs753659761 |
83 | Y>H | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA375225122 RCV002231677 rs1554982834 |
84 | E>K | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001555941 RCV001376621 CA253837 rs121908644 RCV000006704 VAR_000683 |
86 | R>C | Citrullinemia Citrullinemia type I CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001582905 VAR_015892 rs575001023 RCV000256238 CA5283210 RCV001376558 |
86 | R>H | Variant assessed as Somatic; 0.0 impact. Citrullinemia type I Citrullinemia CTLN1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs1588475891 RCV001004327 |
88 | L>missing | Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
|
rs895822620 RCV000527150 CA200608041 RCV000489131 RCV001376543 |
88 | L>I | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs769018733 CA5283213 VAR_078389 |
91 | T>P | CTLN1; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
| VAR_015893 | 95 | R>S | CTLN1; increased thermal stability; loss of argininosuccinate synthase activity [UniProt] | Yes | UniProt |
| VAR_058339 | 96 | P>H | CTLN1; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity [UniProt] | Yes | UniProt |
| VAR_078390 | 96 | P>L | CTLN1; decreased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; loss of argininosuccinate synthase activity [UniProt] | Yes | UniProt |
| VAR_015894 | 96 | P>S | CTLN1; no effect on thermal stability; decreased argininosuccinate synthase activity [UniProt] | Yes | UniProt |
|
rs1554982847 RCV000670815 CA375225222 |
97 | C>* | Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078391 | 97 | C>del | CTLN1 [UniProt] | Yes | UniProt |
|
VAR_078392 CA5283218 RCV002531229 rs370695114 RCV000669448 |
100 | R>C | Citrullinemia type I Citrullinemia CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002524908 VAR_078393 CA5283219 rs138279074 RCV000508525 RCV002524907 RCV000669776 |
100 | R>H | Citrullinemia type I Citrullinemia Inborn genetic diseases CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1845505181 RCV001047520 RCV001832447 |
105 | I>S | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000695591 rs1564903969 RCV002233293 |
107 | Q>missing | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_016014 RCV001705583 rs35269064 RCV000006706 RCV001273804 RCV000436562 CA253840 |
108 | R>L | Citrullinemia type I Citrullinemia CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5283224 COSM1460493 RCV002464292 rs143405567 RCV000692899 |
108 | R>W | large_intestine Citrullinemia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_078394 | 111 | A>D | CTLN1 [UniProt] | Yes | UniProt |
|
RCV001216595 rs1845506282 |
113 | Y>* | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078395 | 117 | G>C | CTLN1 [UniProt] | Yes | UniProt |
|
CA375225343 RCV002549237 RCV001004328 rs745404241 VAR_015896 |
117 | G>D | Citrullinemia type I Citrullinemia CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD UniProt |
|
RCV000671967 rs770944877 CA5283233 VAR_015895 RCV001376559 |
117 | G>S | Variant assessed as Somatic; 0.0 impact. Citrullinemia type I Citrullinemia CTLN1; decreased thermal stability; loss of argininosuccinate synthase activity [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_000684 rs775305020 CA5283236 RCV001004329 RCV001376619 RCV002549238 COSM1624631 |
118 | A>T | liver Citrullinemia type I Citrullinemia Inborn genetic diseases CTLN1; decreased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_016015 rs1845507027 RCV001209466 |
119 | T>I | Citrullinemia CTLN1; decreased thermal stability; loss of argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
CA200612215 RCV001783037 RCV000552381 rs936192871 VAR_058340 |
124 | D>N | Citrullinemia type I Citrullinemia CTLN1; loss of argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA375225781 RCV002235282 rs771794639 |
127 | R>G | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201623252 RCV000665366 CA200612224 VAR_078396 |
127 | R>L | Citrullinemia type I increased thermal stability; loss of argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
VAR_058341 rs201623252 RCV001386473 RCV000761475 CA5283261 |
127 | R>Q | Citrullinemia Citrullinemia type I CTLN1; increased thermal stability; loss of argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
rs771794639 CA5283260 VAR_058342 RCV000668864 |
127 | R>W | Variant assessed as Somatic; 0.0 impact. Citrullinemia type I CTLN1; severe clinical course; loss of argininosuccinate synthase activity [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002531349 rs1554983716 RCV000674366 |
136 | A>missing | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554983717 RCV000665132 RCV001855437 |
138 | Q>missing | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16041300 RCV000409826 rs1057516339 |
138 | Q>* | Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078397 | 138 | Q>del | CTLN1 [UniProt] | Yes | UniProt |
|
CA375226370 VAR_072792 rs1184442048 |
141 | V>G | CTLN1 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV002228612 rs786204648 RCV000169436 |
150 | F>missing | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000364188 CA5283293 rs373239430 RCV001861342 |
153 | R>Q | Variant assessed as Somatic; 0.0 impact. Citrullinemia type I Citrullinemia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001869157 rs1004492719 RCV000780873 |
154 | F>missing | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001004331 RCV001376579 VAR_015897 CA5283296 rs770585183 |
157 | R>C | Citrullinemia type I Citrullinemia CTLN1; decreased thermal stability; loss of argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000006697 COSM1105974 VAR_000685 RCV000259104 CA253830 rs121908637 RCV001376613 |
157 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium Citrullinemia Citrullinemia type I CTLN1; loss of argininosuccinate synthase activity [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_078398 | 157 | R>S | CTLN1 [UniProt] | Yes | UniProt |
|
CA200614135 rs969835605 VAR_058343 RCV001283858 |
160 | L>P | Citrullinemia type I CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1313340299 RCV001004332 RCV001860552 |
162 | E>missing | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078399 | 163 | Y>del | CTLN1 [UniProt] | Yes | UniProt |
| VAR_078400 | 164 | A>P | CTLN1 [UniProt] | Yes | UniProt |
|
CA5283329 rs372078387 RCV000315185 |
172 | P>L | Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002234316 CA375227130 rs1588486990 |
173 | V>D | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5283335 RCV001830335 rs768846877 RCV001320129 |
178 | P>L | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA118130 VAR_015898 RCV000006707 RCV000256312 RCV000291508 rs121908646 RCV001376556 |
179 | W>R | Citrullinemia, mild Citrullinemia type I Citrullinemia CTLN1; mild; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000529881 rs121908638 RCV001376549 CA375227223 RCV002254300 VAR_078401 |
180 | S>I | Citrullinemia type I Citrullinemia CTLN1; increased thermal stability; loss of argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000185782 rs121908638 CA253831 VAR_000686 RCV001376618 RCV000006698 |
180 | S>N | Citrullinemia Citrullinemia type I CTLN1; decreased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_078402 CA375227289 rs368192467 |
184 | N>K | CTLN1 [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001368513 rs1564151430 RCV000779573 CA375227309 |
186 | M>R | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002563997 RCV001241266 rs1845851030 |
186 | M>V | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_058344 | 190 | Y>D | CTLN1 [UniProt] | Yes | UniProt |
|
RCV001376580 CA275932 VAR_015899 rs777828000 COSM1193644 RCV000190357 |
191 | E>K | lung Citrullinemia Citrullinemia type I CTLN1 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_058345 | 191 | E>Q | CTLN1; loss of argininosuccinate synthase activity [UniProt] | Yes | UniProt |
|
RCV001208375 CA200617909 rs568893606 |
192 | A>T | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
| VAR_000687 | 192 | A>V | CTLN1; decreased protein abundance [UniProt] | Yes | UniProt |
|
RCV002232935 rs1311437424 CA375227479 RCV000702722 |
193 | G>R | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA312360 rs796051936 RCV002228804 RCV000185794 |
195 | L>P | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845865147 RCV001216275 |
196 | E>K | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001271730 CA285301 RCV000796571 RCV000259040 rs376371866 VAR_058346 |
202 | A>E | Citrullinemia type I Citrullinemia CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002235416 rs147858743 CA5283401 |
203 | P>T | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_058347 | 206 | L>P | CTLN1 [UniProt] | Yes | UniProt |
|
rs62637575 RCV000839081 RCV001391315 RCV001084710 RCV002538286 CA5283403 |
208 | T>A | Citrullinemia type I Citrullinemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001230817 RCV002241357 rs776441071 CA5283404 |
208 | T>R | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1486449199 RCV001347285 |
213 | P>L | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1043964127 CA200576291 RCV002549239 RCV001004333 RCV001585913 |
216 | A>D | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375229025 RCV000490502 rs1085307056 |
230 | G>A | Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_078403 | 230 | G>R | CTLN1 [UniProt] | Yes | UniProt |
| VAR_078404 | 237 | N>I | CTLN1 [UniProt] | Yes | UniProt |
|
RCV001208298 RCV002562344 rs565520844 RCV002562345 CA5283442 |
237 | N>S | Citrullinemia Citrullinemia type I Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001833913 RCV001220230 CA5283444 rs368414392 |
238 | V>I | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1588495489 RCV001004535 CA375229354 |
253 | Y>* | Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5283452 RCV001507165 RCV000224618 rs74923032 RCV001083842 RCV000431804 |
256 | E>K | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_078405 | 258 | A>P | CTLN1 [UniProt] | Yes | UniProt |
|
rs765748014 RCV001242153 CA5283454 RCV002564018 |
258 | A>T | Variant assessed as Somatic; 0.0 impact. Citrullinemia Citrullinemia type I [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5283455 RCV000669784 RCV002531238 rs753078725 VAR_078406 |
258 | A>V | Citrullinemia Citrullinemia type I CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001376591 rs192838388 CA266753 RCV000078024 RCV000185783 VAR_058348 |
263 | V>M | Citrullinemia type I Citrullinemia CTLN1; mild clinical course; no effect on affinity for aspartate; no effect on affinity for citrulline; decreased argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1846139972 RCV001304483 |
264 | G>V | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001831814 RCV001247325 rs148918985 CA266754 RCV000078025 VAR_058349 |
265 | R>C | Citrullinemia type I Citrullinemia CTLN1; severe clinical course; loss of argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000723811 RCV001383414 CA266755 RCV000078026 VAR_015900 rs398123131 |
265 | R>H | Variant assessed as Somatic; 0.0 impact. Citrullinemia Citrullinemia type I CTLN1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs398123131 RCV001318678 |
265 | R>L | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001271732 CA5283532 rs377221825 |
266 | I>V | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000412912 RCV000174211 RCV001290023 VAR_015901 CA274963 rs370595480 |
269 | V>M | Citrullinemia Citrullinemia type I CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs775163147 VAR_016007 CA5283535 RCV000673280 RCV002221574 |
270 | E>Q | Citrullinemia type I Citrullinemia CTLN1; loss of argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs759483921 RCV001387396 |
271 | N>missing | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_000688 CA5283537 rs762387914 RCV001376574 RCV000409266 COSM1736635 |
272 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system Citrullinemia Citrullinemia type I CTLN1; increased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
VAR_078407 CA375229492 rs768215008 |
272 | R>H | CTLN1; increased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_078408 rs768215008 CA5283538 |
272 | R>L | CTLN1; increased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA375229511 rs1554723625 RCV000673813 |
275 | G>* | Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078409 | 275 | G>del | CTLN1 [UniProt] | Yes | UniProt |
|
RCV001066848 rs1365759588 CA375229519 RCV001827432 |
276 | M>T | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001250094 rs1846142065 |
277 | K>R | Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_058350 | 277 | K>T | CTLN1 [UniProt] | Yes | UniProt |
|
rs1846142146 RCV001048427 |
278 | S>missing | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000006705 RCV001376581 rs121908645 CA253838 |
279 | R>* | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000078027 RCV000723467 RCV001290025 rs371265106 CA266756 VAR_016008 |
279 | R>Q | Citrullinemia type I Citrullinemia CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
| VAR_078410 | 279 | R>del | CTLN1 [UniProt] | Yes | UniProt |
| VAR_000689 | 280 | G>R | CTLN1; loss of argininosuccinate synthase activity [UniProt] | Yes | UniProt |
|
rs754062242 RCV002231277 CA375230442 |
280 | G>V | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001784584 rs549085827 CA375230456 RCV001042848 |
282 | Y>* | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000493705 rs765338121 VAR_015902 RCV001290024 RCV000672066 CA5283562 |
283 | E>K | Variant assessed as Somatic; 0.0 impact. Citrullinemia Citrullinemia type I CTLN1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10588902 VAR_058351 RCV002519007 rs886039853 RCV000256276 |
284 | T>I | Citrullinemia Citrullinemia type I CTLN1; mild clinical course [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
| VAR_078411 | 290 | L>P | CTLN1 [UniProt] | Yes | UniProt |
| VAR_058352 | 291 | Y>S | CTLN1 [UniProt] | Yes | UniProt |
| VAR_058353 | 296 | D>G | CTLN1 [UniProt] | Yes | UniProt |
|
RCV001376598 RCV002225489 rs770362721 RCV000169181 |
298 | E>missing | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372061654 RCV002514371 CA220298 RCV000078029 |
298 | E>G | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5283568 rs768394647 VAR_078412 |
299 | A>D | CTLN1 [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_058354 | 302 | M>V | CTLN1; no effect on affinity for aspartate; no effect on affinity for citrulline; decreased argininosuccinate synthase activity [UniProt] | Yes | UniProt |
|
rs771640767 CA5283570 RCV002241559 RCV001246468 |
304 | R>Q | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000723845 VAR_000690 RCV001376582 rs121908642 CA253835 RCV000006702 |
304 | R>W | Citrullinemia type I Citrullinemia CTLN1; decreased protein abundance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs398123132 RCV003114241 CA220300 RCV000078030 |
305 | E>V | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078413 | 306 | V>G | CTLN1 [UniProt] | Yes | UniProt |
|
VAR_058355 RCV000255358 COSM1460495 RCV001376643 rs183276875 RCV000558661 CA5283572 |
307 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine Citrullinemia Citrullinemia type I CTLN1 [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001251329 RCV002533186 CA5283573 COSM3413382 RCV000727599 rs571576756 RCV000633520 |
307 | R>H | central_nervous_system Citrullinemia Citrullinemia type I [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000006711 VAR_016009 rs121908648 RCV002512848 CA253841 |
310 | K>Q | Citrullinemia Citrullinemia type I CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000286574 RCV000413247 RCV000506573 RCV001376638 rs199751308 VAR_015903 CA5283575 |
310 | K>R | Citrullinemia Citrullinemia type I CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002532066 RCV000668096 CA375230699 rs1301613270 |
311 | Q>* | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_078414 | 311 | Q>del | CTLN1 [UniProt] | Yes | UniProt |
|
RCV002544676 rs775791516 RCV000674984 |
317 | F>missing | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588503732 RCV002537477 RCV000820782 CA375230807 |
319 | E>K | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_078415 CA233493 rs727503813 RCV000672058 RCV000152807 |
321 | V>M | Citrullinemia type I CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs373473841 CA5283582 COSM1319649 RCV001327407 RCV001836318 |
322 | Y>C | Variant assessed as Somatic; 0.0 impact. Citrullinemia type I Citrullinemia haematopoietic_and_lymphoid_tissue [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001531743 CA253832 VAR_000691 RCV001376631 RCV000006699 rs121908639 |
324 | G>S | Citrullinemia Citrullinemia type I CTLN1; loss of argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1554725034 VAR_058356 RCV002231278 CA375231775 |
324 | G>V | Citrullinemia CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs1057516338 RCV000411785 |
326 | W>missing | Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001832435 RCV002249648 RCV001045467 rs1055308437 CA200593402 |
331 | C>R | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002529816 COSM1238243 CA5283610 RCV000633519 rs373514077 |
335 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus Citrullinemia Citrullinemia type I [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_078416 rs555388438 RCV000670744 RCV002531260 CA5283611 |
335 | R>H | Citrullinemia type I Citrullinemia CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1554725043 CA375231865 RCV002234429 |
337 | C>G | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078417 | 337 | C>R | CTLN1 [UniProt] | Yes | UniProt |
|
rs145100866 RCV000377584 RCV001391333 CA5283615 |
339 | A>T | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_058357 | 341 | S>F | CTLN1 [UniProt] | Yes | UniProt |
|
rs1554725061 CA375231897 RCV002231038 |
342 | Q>R | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786204537 RCV002228610 CA274080 RCV000169239 |
344 | R>* | Variant assessed as Somatic; 0.0 impact. Citrullinemia type I Citrullinemia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
| VAR_078418 | 344 | R>del | CTLN1 [UniProt] | Yes | UniProt |
| VAR_058358 | 345 | V>G | CTLN1 [UniProt] | Yes | UniProt |
| VAR_058359 | 347 | G>R | CTLN1; severe clinical course [UniProt] | Yes | UniProt |
|
rs773909247 RCV001046678 RCV001827292 CA5283619 |
351 | V>M | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000819436 COSM3765430 CA5283622 rs754285392 |
353 | V>I | central_nervous_system Citrullinemia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375232179 rs1261110148 VAR_078419 RCV000672036 |
356 | G>V | Citrullinemia type I CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar dbSNP gnomAD UniProt |
|
CA5283626 RCV000633522 rs756859126 RCV000757010 RCV002233956 |
357 | Q>* | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001056355 rs1846543789 |
357 | Q>R | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078420 | 357 | Q>del | CTLN1 [UniProt] | Yes | UniProt |
|
rs1588508532 RCV001004537 |
359 | Y>missing | Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375232195 VAR_058360 RCV002233206 rs1262020902 |
359 | Y>D | Citrullinemia CTLN1; mild clinical course [ClinVar, UniProt] | Yes |
ClinGen ClinVar TOPMed dbSNP UniProt |
|
rs121908647 RCV000006708 RCV001851704 VAR_015904 RCV000256322 RCV000418697 CA118131 |
362 | G>V | Citrullinemia, mild Citrullinemia Citrullinemia type I CTLN1; mild; no effect on affinity for aspartate; no effect on affinity for citrulline; decreased argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs121908640 VAR_016010 RCV001051532 |
363 | R>G | Citrullinemia CTLN1 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
| VAR_000692 | 363 | R>L | CTLN1 [UniProt] | Yes | UniProt |
|
RCV000633525 CA312352 COSM462438 VAR_016011 rs771937610 RCV002500568 RCV000185788 |
363 | R>Q | cervix Variant assessed as Somatic; 0.0 impact. Citrullinemia Citrullinemia type I CTLN1 [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_000693 RCV001376637 CA253833 rs121908640 RCV000006700 RCV000185787 |
363 | R>W | Citrullinemia Citrullinemia type I CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs1439911743 RCV003153687 |
376 | S>R | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1213378896 RCV000672915 |
380 | Q>missing | Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786204460 RCV000169103 CA273943 RCV001850390 |
380 | Q>* | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078421 | 380 | Q>del | CTLN1 [UniProt] | Yes | UniProt |
|
rs1846687897 RCV001239626 |
386 | T>missing | Citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000884331 RCV001507156 rs145288815 CA5283661 |
389 | T>A | Citrullinemia type I Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA375232698 rs1474017319 VAR_016012 RCV001830721 RCV000800006 |
389 | T>I | Citrullinemia type I Citrullinemia CTLN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
| VAR_078422 | 389 | T>P | CTLN1 [UniProt] | Yes | UniProt |
|
VAR_000694 RCV002512846 CA253834 RCV000185789 RCV000006701 rs121908641 RCV001376575 |
390 | G>R | Citrullinemia type I Citrullinemia Inborn genetic diseases CTLN1; loss of argininosuccinate synthase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002282180 rs1554725724 RCV000984146 RCV002230974 RCV000497925 CA375232708 |
391 | F>L | Citrullinemia Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA200598089 rs990803455 RCV001215164 |
401 | E>K | Citrullinemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554725909 RCV000666209 |
403 | H>missing | Citrullinemia type I [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200379004 CA5283122 |
2 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5283123 rs201700775 |
5 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5283124 rs757913342 |
6 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5283125 rs757913342 |
6 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144999474 CA5283128 |
9 | L>V | No |
ClinGen ESP ExAC |
|
|
rs1283372037 CA375223520 |
12 | S>G | No |
ClinGen TOPMed |
|
|
rs1588471179 CA375223548 |
16 | D>G | No |
ClinGen Ensembl |
|
|
CA200603554 rs912037125 COSM1245580 |
22 | V>G | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA5283135 CA5283133 rs762279472 |
22 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5283134 rs762279472 |
22 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375223594 rs1175810875 |
23 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 24 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766668660 CA5283137 |
26 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs543339767 CA5283138 |
27 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1105971 CA5283139 rs758038108 |
30 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA375223636 rs758038108 |
30 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5283140 rs374444560 |
31 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1313069512 CA375223651 |
32 | I>T | No |
ClinGen gnomAD |
|
|
rs142221856 CA200603573 |
32 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs200254372 CA200603579 |
33 | A>S | No |
ClinGen Ensembl |
|
|
CA312356 rs1554982006 |
34 | Y>N | No |
ClinGen Ensembl |
|
|
rs1479796639 CA375223686 |
36 | A>D | No |
ClinGen gnomAD |
|
|
CA375223694 rs1412223944 |
37 | N>S | No |
ClinGen TOPMed |
|
|
CA375223698 rs1176198275 |
38 | I>V | No |
ClinGen gnomAD |
|
|
rs751131164 CA5283160 |
40 | Q>H | No |
ClinGen ExAC |
|
|
rs1460136199 CA375223725 |
42 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1167026676 CA375223734 |
43 | D>H | No |
ClinGen gnomAD |
|
|
rs766880501 CA5283162 |
45 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375223769 rs1301161301 |
47 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 49 | K>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5283167 rs773150312 |
56 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5283168 rs779222693 |
57 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 58 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375224771 rs1390986372 |
59 | V>M | No |
ClinGen gnomAD |
|
|
CA5283193 rs746316364 |
60 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5283194 rs769314825 |
61 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375224797 rs1423131094 |
61 | I>V | No |
ClinGen TOPMed |
|
|
rs1230404130 CA375224808 |
62 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA375224878 rs1257036291 |
67 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 72 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5283199 rs760286858 |
75 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5283201 rs776718909 |
77 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA375225030 rs776718909 |
77 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5283206 rs764329260 |
81 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA200608034 rs112797174 |
85 | D>G | No |
ClinGen Ensembl |
|
|
rs780509094 CA5283211 |
87 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs895822620 CA375225166 |
88 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA375225171 rs1277427690 |
89 | L>V | No |
ClinGen gnomAD |
|
|
CA375225178 rs1422867920 |
90 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs773015306 CA5283214 |
92 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA375225220 rs1230950318 |
97 | C>S | No |
ClinGen gnomAD |
|
|
CA5283215 rs746597456 |
98 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5283217 rs150466363 |
99 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA200608079 rs1032750114 |
103 | V>M | No |
ClinGen Ensembl |
|
|
CA5283222 rs763817750 |
106 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762677536 CA5283221 |
106 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5283223 rs149602848 |
107 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35269064 CA5283225 |
108 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371907747 CA5283226 |
109 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs962458695 CA200608129 |
109 | E>V | No |
ClinGen TOPMed |
|
|
rs146176455 CA5283229 |
113 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779412497 CA5283230 |
114 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5283234 rs745404241 |
117 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs794727696 CA245886 RCV000178706 |
119 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA375225759 rs761616623 |
123 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375225790 rs1226547650 |
128 | F>L | No |
ClinGen gnomAD |
|
|
CA312358 rs1554983712 |
129 | E>K | No |
ClinGen Ensembl |
|
|
rs1465454336 CA375225805 |
131 | S>G | No |
ClinGen gnomAD |
|
|
CA5283265 rs760164246 |
136 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5283264 rs776754303 |
136 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1554983717 | 138 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 138 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401148533 CA375225862 |
139 | I>M | No |
ClinGen TOPMed |
|
|
CA200614015 rs755004509 |
141 | V>I | No |
ClinGen Ensembl |
|
|
rs769831651 CA5283288 |
144 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015400282 CA200614048 |
146 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 147 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369389991 CA5283289 |
148 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1251662364 CA375226418 |
149 | E>K | No |
ClinGen TOPMed |
|
|
rs754486641 CA5283290 |
151 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5283294 rs373239430 |
153 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5283291 rs576636333 |
153 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5283295 rs746855701 |
155 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA200614087 rs960633659 |
155 | K>R | No |
ClinGen TOPMed |
|
|
rs1199062770 CA375226476 |
158 | N>D | No |
ClinGen gnomAD |
|
|
CA5283298 rs770066903 |
158 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5283299 rs775699839 |
161 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs377319610 CA5283301 |
163 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375226515 rs1167697513 |
163 | Y>C | No |
ClinGen gnomAD |
|
|
CA375226518 rs201445618 |
164 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA200614156 rs201445618 |
164 | A>T | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 165 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200617256 rs577627504 |
167 | H>R | No |
ClinGen 1000Genomes |
|
|
rs978412155 CA200617253 |
167 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs763449750 CA5283327 CA375227065 |
168 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372078387 CA5283328 |
172 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs911748539 CA375227128 |
173 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs911748539 CA200617273 |
173 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs911748539 CA375227127 |
173 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1207643091 CA375227159 |
176 | K>E | No |
ClinGen gnomAD |
|
|
CA5283332 rs755924197 |
176 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780436694 CA5283333 |
177 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1409764603 CA375227211 |
179 | W>C | No |
ClinGen gnomAD |
|
|
rs1456790094 CA375227219 |
180 | S>C | No |
ClinGen gnomAD |
|
|
CA375227233 rs1391150004 |
181 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5283337 rs773665483 |
183 | E>K | No |
ClinGen ExAC |
|
|
CA5283340 rs775215941 |
185 | L>H | No |
ClinGen ExAC |
|
| TCGA novel | 185 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380426442 CA375227315 |
186 | M>I | No |
ClinGen gnomAD |
|
|
rs762510847 CA5283341 |
188 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5283369 rs752862441 |
190 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430947504 CA375227517 |
196 | E>A | No |
ClinGen gnomAD |
|
|
rs1355715277 CA375227536 |
197 | N>K | No |
ClinGen gnomAD |
|
|
rs1331462223 CA375227533 |
197 | N>S | No |
ClinGen gnomAD |
|
|
rs781652117 CA5283373 |
198 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA200617954 rs764078809 |
199 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs750874679 CA5283396 |
200 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs563922134 CA5283397 |
201 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375228265 rs1588492576 |
201 | Q>L | No |
ClinGen Ensembl |
|
|
CA5283398 rs376371866 |
202 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375228294 rs1477093617 |
203 | P>L | No |
ClinGen gnomAD |
|
|
rs746536193 COSM1701819 CA5283402 |
205 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 207 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776441071 CA200576260 |
208 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375228381 rs1588492623 |
210 | T>P | No |
ClinGen Ensembl |
|
|
CA375228440 rs1486449199 |
213 | P>Q | No |
ClinGen TOPMed |
|
|
rs1462611440 CA375228465 |
215 | K>I | No |
ClinGen gnomAD |
|
|
CA375228474 rs1156471881 |
216 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 216 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280678606 CA5283406 |
219 | T>A | No |
ClinGen TOPMed |
|
|
CA5283408 rs769538241 |
219 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1280678606 CA375228510 |
219 | T>P | No |
ClinGen TOPMed |
|
|
rs764331417 CA5283411 |
224 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5283412 rs761813681 |
226 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5283413 rs767628546 |
226 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1397280585 CA375229033 |
231 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA375229030 rs1397280585 |
231 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA375229053 rs1564155839 |
232 | P>L | No |
ClinGen Ensembl |
|
|
CA375229046 rs1321789086 |
232 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs745415384 CA5283441 |
236 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA375229154 rs1480656634 |
240 | D>H | No |
ClinGen gnomAD |
|
|
rs1266978229 CA375229168 |
241 | G>S | No |
ClinGen gnomAD |
|
|
CA375229276 rs1447491328 |
248 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1429090527 CA375229271 |
248 | L>S | No |
ClinGen Ensembl |
|
|
rs748358908 CA5283447 |
249 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5283448 rs772369785 |
250 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5283450 rs760818666 |
252 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs547904731 | 257 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5283529 rs567807132 |
259 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1193243645 CA375229419 |
260 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749349212 CA5283530 |
261 | H>R | No |
ClinGen ExAC |
|
|
rs1254010338 CA375229430 |
262 | G>S | No |
ClinGen gnomAD |
|
|
rs1465173093 CA375229462 |
267 | D>G | No |
ClinGen TOPMed |
|
|
rs773540764 CA5283533 |
268 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200580745 rs544170871 |
271 | N>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 274 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754062242 CA5283560 |
280 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5283539 rs767470664 |
280 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA375230475 rs1313489293 |
285 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1414109637 CA375230472 |
285 | P>S | No |
ClinGen gnomAD |
|
|
CA375230482 rs1237139147 |
287 | G>S | No |
ClinGen gnomAD |
|
|
CA200588393 rs1043724459 |
292 | H>Y | No |
ClinGen TOPMed |
|
|
rs1225791024 CA375230522 |
293 | A>T | No |
ClinGen gnomAD |
|
|
CA375230526 rs1433075371 |
293 | A>V | No |
ClinGen TOPMed |
|
|
rs1278663122 CA375230540 |
295 | L>* | No |
ClinGen gnomAD |
|
|
rs752042210 CA5283565 |
296 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1257594301 CA375230553 |
297 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5283566 rs757629975 |
297 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5283567 rs201419685 |
298 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA375230556 rs1372482894 |
298 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 299 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5283569 rs778658154 |
301 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs771640767 CA375230606 |
304 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200589177 rs1013784875 |
306 | V>A | No |
ClinGen Ensembl |
|
|
rs776452362 CA5283574 |
308 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375230697 rs1301613270 |
311 | Q>E | No |
ClinGen gnomAD |
|
|
CA200589214 rs999685778 |
311 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763028919 CA5283577 |
312 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs727503813 CA375230836 |
321 | V>L | No |
ClinGen Ensembl |
|
|
rs1250895424 CA375230874 |
323 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs121908639 CA375230877 |
324 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375231804 rs1224833895 |
328 | S>N | No |
ClinGen TOPMed |
|
|
CA375231834 rs1484802218 |
332 | E>G | No |
ClinGen gnomAD |
|
|
CA375231830 rs1283242027 |
332 | E>K | No |
ClinGen TOPMed |
|
|
CA5283609 rs756665874 |
333 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1434881256 CA375231850 |
334 | V>A | No |
ClinGen TOPMed |
|
|
CA5283613 rs769634647 |
338 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA5283612 rs769634647 |
338 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs538040998 CA5283616 |
340 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs538040998 CA5283617 |
340 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA200593434 rs999411828 |
344 | R>Q | No |
ClinGen TOPMed |
|
|
rs1289852479 CA375231923 |
346 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA200593435 rs1032111331 |
346 | E>G | No |
ClinGen Ensembl |
|
|
rs1428619789 CA375231933 |
348 | K>E | No |
ClinGen TOPMed |
|
|
rs1174700771 CA375231939 |
349 | V>M | No |
ClinGen gnomAD |
|
|
rs886043088 RCV000306977 |
355 | K>missing | No |
ClinVar dbSNP |
|
|
CA375232178 rs1261110148 |
356 | G>D | No |
ClinGen gnomAD |
|
|
rs780667165 CA375232189 |
358 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780667165 CA5283627 |
358 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1486068351 CA375232197 |
359 | Y>C | No |
ClinGen gnomAD |
|
|
CA375232194 rs1262020902 |
359 | Y>H | No |
ClinGen TOPMed |
|
|
CA375232206 rs1248643636 |
360 | I>N | No |
ClinGen gnomAD |
|
|
CA375232213 rs1160216159 |
361 | L>R | No |
ClinGen gnomAD |
|
|
rs779930497 CA5283630 |
362 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370653471 CA375232245 |
367 | L>P | No |
ClinGen gnomAD |
|
|
CA375232314 rs1355666688 |
372 | E>D | No |
ClinGen gnomAD |
|
|
CA375232320 rs1453708640 |
373 | E>* | No |
ClinGen TOPMed |
|
|
rs1361316705 CA375232621 |
377 | M>I | No |
ClinGen gnomAD |
|
|
CA375232628 rs140715869 |
378 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375232630 rs78549067 |
379 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5283656 rs78549067 |
379 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746347893 CA5283657 |
380 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5283658 rs770243951 |
382 | D>V | No |
ClinGen ExAC |
|
|
CA5283659 rs775691183 |
385 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs376164698 CA375232676 |
386 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486493080 CA375232678 |
386 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5283660 rs376164698 |
386 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5283664 rs753858624 |
390 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5283663 rs121908641 |
390 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754836732 CA5283665 |
393 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA200596746 rs1011135762 |
394 | I>M | No |
ClinGen TOPMed |
|
|
CA375232725 rs1301940406 |
394 | I>V | No |
ClinGen TOPMed |
|
|
CA200596751 rs1021193921 |
395 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1419938185 CA375232737 |
396 | S>T | No |
ClinGen TOPMed |
|
|
rs1437068422 CA375232766 |
398 | R>S | No |
ClinGen TOPMed |
|
|
CA200598075 RCV000727598 rs758372973 |
399 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA375232790 rs1347470516 |
402 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1017828856 CA200598108 |
402 | Y>H | No |
ClinGen Ensembl |
|
|
rs964964749 CA200598133 |
403 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs765099183 CA5283690 |
404 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs752612525 CA5283691 |
404 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1242919093 CA375232809 |
405 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 407 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588514433 CA375232820 |
407 | S>G | No |
ClinGen Ensembl |
|
|
rs758336855 CA5283692 |
408 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200598150 rs929028529 |
411 | A>P | No |
ClinGen Ensembl |
|
|
rs763970075 CA5283693 |
413 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA375232864 rs1243083380 |
413 | K>Y | No |
ClinGen TOPMed |
1 associated diseases with P00966
[MIM: 215700]: Citrullinemia 1 (CTLN1)
The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood. {ECO:0000269|PubMed:11708871, ECO:0000269|PubMed:11941481, ECO:0000269|PubMed:12815590, ECO:0000269|PubMed:14680976, ECO:0000269|PubMed:15863597, ECO:0000269|PubMed:16475226, ECO:0000269|PubMed:18473344, ECO:0000269|PubMed:19006241, ECO:0000269|PubMed:1943692, ECO:0000269|PubMed:2358466, ECO:0000269|PubMed:23611581, ECO:0000269|PubMed:24889030, ECO:0000269|PubMed:25179242, ECO:0000269|PubMed:27287393, ECO:0000269|PubMed:28111830, ECO:0000269|PubMed:7977368}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood. {ECO:0000269|PubMed:11708871, ECO:0000269|PubMed:11941481, ECO:0000269|PubMed:12815590, ECO:0000269|PubMed:14680976, ECO:0000269|PubMed:15863597, ECO:0000269|PubMed:16475226, ECO:0000269|PubMed:18473344, ECO:0000269|PubMed:19006241, ECO:0000269|PubMed:1943692, ECO:0000269|PubMed:2358466, ECO:0000269|PubMed:23611581, ECO:0000269|PubMed:24889030, ECO:0000269|PubMed:25179242, ECO:0000269|PubMed:27287393, ECO:0000269|PubMed:28111830, ECO:0000269|PubMed:7977368}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 regional properties for P00966
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Argininosuccinate synthase, conserved site | 10 - 18 | IPR018223-1 |
| conserved_site | Argininosuccinate synthase, conserved site | 117 - 128 | IPR018223-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 6.3.4.5 | Other carbon--nitrogen ligases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell body fiber | A neuron projection that is found in unipolar neurons and corresponds to the region between the cell body and the point at which the single projection branches. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| amino acid binding | Binding to an amino acid, organic acids containing one or more amino substituents. |
| argininosuccinate synthase activity | Catalysis of the reaction: ATP + L-citrulline + L-aspartate = AMP + diphosphate + (N(omega)-L-arginino)succinate. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| identical protein binding | Binding to an identical protein or proteins. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| toxic substance binding | Binding to a toxic substance, a poisonous substance that causes damage to biological systems. |
31 GO annotations of biological process
| Name | Definition |
|---|---|
| acute-phase response | An acute inflammatory response that involves non-antibody proteins whose concentrations in the plasma increase in response to infection or injury of homeothermic animals. |
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| arginine biosynthetic process | The chemical reactions and pathways resulting in the formation of arginine, 2-amino-5-(carbamimidamido)pentanoic acid. |
| argininosuccinate metabolic process | The chemical reactions and pathways involving argininosuccinate, 2-(N(omega)-arginino)succinate, an intermediate in the ornithine-urea cycle, where it is synthesized from citrulline and aspartate. |
| aspartate metabolic process | The chemical reactions and pathways involving aspartate, the anion derived from aspartic acid, 2-aminobutanedioic acid. |
| cellular response to amine stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amine stimulus. An amine is a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups. |
| cellular response to amino acid stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. |
| cellular response to ammonium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ammonium stimulus. |
| cellular response to cAMP | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| cellular response to dexamethasone stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dexamethasone stimulus. |
| cellular response to glucagon stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucagon stimulus. |
| cellular response to interferon-gamma | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far. |
| cellular response to laminar fluid shear stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a laminar fluid shear stress stimulus. Laminar fluid flow is the force acting on an object in a system where the fluid is moving across a solid surface in parallel layers. |
| cellular response to lipopolysaccharide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| cellular response to oleic acid | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oleic acid stimulus. |
| cellular response to tumor necrosis factor | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. |
| circadian rhythm | Any biological process in an organism that recurs with a regularity of approximately 24 hours. |
| citrulline metabolic process | The chemical reactions and pathways involving citrulline, N5-carbamoyl-L-ornithine, an alpha amino acid not found in proteins. |
| diaphragm development | The progression of the diaphragm over time from its initial formation to the mature structure. The diaphragm is a skeletal muscle that is responsible for contraction and expansion of the lungs. |
| kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
| liver development | The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes. |
| midgut development | The process whose specific outcome is the progression of the midgut over time, from its formation to the mature structure. The midgut is the middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine. |
| negative regulation of leukocyte cell-cell adhesion | Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte cell-cell adhesion. |
| positive regulation of nitric oxide biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide. |
| response to estradiol | 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 stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. |
| response to growth hormone | 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 growth hormone stimulus. Growth hormone is a peptide hormone that binds to the growth hormone receptor and stimulates growth. |
| response to mycotoxin | 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 mycotoxin stimulus. A mycotoxin is a toxic chemical substance produced by fungi. |
| 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 xenobiotic stimulus | 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 from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| response to zinc ion | 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 zinc ion stimulus. |
| urea cycle | The sequence of reactions by which arginine is synthesized from ornithine, then cleaved to yield urea and regenerate ornithine. The overall reaction equation is NH3 + CO2 + aspartate + 3 ATP + 2 H2O = urea + fumarate + 2 ADP + 2 phosphate + AMP + diphosphate. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P16460 | Ass1 | Argininosuccinate synthase | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSKGSVVLA | YSGGLDTSCI | LVWLKEQGYD | VIAYLANIGQ | KEDFEEARKK | ALKLGAKKVF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IEDVSREFVE | EFIWPAIQSS | ALYEDRYLLG | TSLARPCIAR | KQVEIAQREG | AKYVSHGATG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KGNDQVRFEL | SCYSLAPQIK | VIAPWRMPEF | YNRFKGRNDL | MEYAKQHGIP | IPVTPKNPWS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MDENLMHISY | EAGILENPKN | QAPPGLYTKT | QDPAKAPNTP | DILEIEFKKG | VPVKVTNVKD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GTTHQTSLEL | FMYLNEVAGK | HGVGRIDIVE | NRFIGMKSRG | IYETPAGTIL | YHAHLDIEAF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TMDREVRKIK | QGLGLKFAEL | VYTGFWHSPE | CEFVRHCIAK | SQERVEGKVQ | VSVLKGQVYI |
| 370 | 380 | 390 | 400 | 410 | |
| LGRESPLSLY | NEELVSMNVQ | GDYEPTDATG | FININSLRLK | EYHRLQSKVT | AK |