P05155
PR
Gene name |
SERPING1 (C1IN, C1NH) |
Protein name |
Plasma protease C1 inhibitor |
Names |
C1 Inh, C1Inh, C1 esterase inhibitor, C1-inhibiting factor, Serpin G1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:710 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for P05155
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2OAY | X-ray | 235 A | A | 119-500 | PDB |
| 5DU3 | X-ray | 210 A | A/B | 119-500 | PDB |
| 5DUQ | X-ray | 290 A | A/B | 118-500 | PDB |
| 7AKV | EM | 360 A | A | 98-500 | PDB |
| AF-P05155-F1 | Predicted | AlphaFoldDB |
468 variants for P05155
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000404962 rs185342631 RCV000861019 CA6007946 RCV000768088 |
2 | A>V | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1945310324 RCV001030448 |
4 | R>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_071701 | 11 | L>R | HAE1; phenotype consistent with hereditary angioedema type 1 [UniProt] | Yes | UniProt |
|
rs1565169419 CA380694195 RCV000758137 |
19 | R>* | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1590822296 RCV000768688 |
36 | S>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001859812 CA10635075 RCV000364086 VAR_027374 rs11229062 |
39 | D>E | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA380694448 rs778625408 RCV000856823 |
42 | E>* | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6007981 RCV001104452 RCV001519541 rs11546661 |
48 | T>A | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6007987 RCV000861052 rs11546660 RCV000320487 VAR_027375 |
56 | V>A | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6007989 RCV001430413 rs752993036 RCV001107207 |
57 | E>K | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1945329402 RCV001258388 |
65 | L>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs182779591 CA10639419 RCV000361136 RCV001850619 |
76 | T>I | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
CA380694923 rs774944411 RCV000851279 |
80 | A>G | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001436658 RCV001107208 CA6008004 RCV002451322 rs147409450 |
82 | T>S | Hereditary angioedema type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_046202 | 84 | D>del | HAE1; phenotype consistent with hereditary angioedema type 2 [UniProt] | Yes | UniProt |
|
rs1945331471 RCV001107209 |
98 | P>L | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001258389 rs1945331796 |
105 | P>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000768690 rs1565169621 |
115 | T>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000851280 rs1590822588 |
116 | Q>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200534715 VAR_068832 RCV000059088 RCV002247461 RCV000316871 CA219261 |
118 | T>A | Hereditary angioedema type 1 HAE1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_027379 | 130 | C>Y | HAE1; phenotype consistent with hereditary angioedema type 1 [UniProt] | Yes | UniProt |
|
CA219263 VAR_068833 COSM1298212 RCV000059089 rs281875168 |
154 | Y>C | urinary_tract HAE1 [Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000856829 rs1590822719 |
164 | E>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001107852 rs1945333871 |
166 | N>T | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1590822739 RCV000851281 |
170 | S>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA219265 RCV000059090 rs281875169 VAR_068834 |
170 | S>F | HAE1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000059091 rs281875170 VAR_068835 CA219267 RCV000768681 |
184 | G>R | Hereditary angioedema type 1 Variant assessed as Somatic; impact. HAE1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001258390 rs1945353409 |
195 | S>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000768695 rs1565170287 |
196 | I>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA380696895 rs1554995255 RCV000508641 |
196 | I>N | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA116532 rs121907951 RCV000004163 |
199 | Y>* | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000851277 rs1590823884 |
201 | K>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000677372 rs1554995260 |
206 | V>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576891 rs1554995271 CA658658057 |
216 | K>S | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1565170364 CA913190273 RCV000768689 |
225 | F>* | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_068836 rs281875171 CA219269 RCV000059092 |
230 | L>P | HAE1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000059093 rs281875172 RCV002362696 VAR_068837 CA219271 |
232 | I>K | Inborn genetic diseases HAE1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA6008114 RCV001107854 rs145436911 RCV001856439 |
241 | R>W | Hereditary angioedema type 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_071702 | 265 | W>R | HAE1 [UniProt] | Yes | UniProt |
| VAR_068838 | 272 | N>del | HAE1 [UniProt] | Yes | UniProt |
| VAR_007012 | 273 | K>del | HAE1; phenotype consistent with hereditary angioedema type 2; creates a new glycosylation site [UniProt] | Yes | UniProt |
| VAR_071703 | 274 | I>V | HAE1; phenotype consistent with hereditary angioedema type 2 [UniProt] | Yes | UniProt |
|
RCV001102614 rs1392305191 |
286 | R>G | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16606256 RCV000423987 rs1057520366 RCV000768684 |
291 | N>H | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6008135 RCV001102615 rs754401203 |
291 | N>S | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA380699773 rs1590826571 RCV000851273 |
293 | I>T | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs281875173 VAR_068839 CA219273 RCV000059094 |
299 | W>R | HAE1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001258392 rs1945410259 |
301 | T>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA380700172 rs1590826703 RCV001759640 RCV000851274 |
303 | F>S | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA380700485 rs1554995860 RCV000508612 |
318 | S>* | Hereditary angioedema type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001258393 rs1945411910 |
329 | K>* | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA380700984 RCV000768687 rs1565171906 |
338 | Q>* | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_027376 | 345 | G>R | HAE1; phenotype consistent with hereditary angioedema type 1 [UniProt] | Yes | UniProt |
|
rs1590829616 RCV000851285 |
346 | Q>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1590829609 RCV000851275 CA380702289 |
346 | Q>* | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000768694 rs1565173309 |
369 | D>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1590829685 RCV000853399 |
369 | D>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6008234 RCV001102618 RCV002320364 rs141529833 RCV001491789 |
388 | M>I | Hereditary angioedema type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1590829763 RCV000851283 |
394 | T>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_027380 | 394 | T>P | HAE1; phenotype consistent with hereditary angioedema type 1 [UniProt] | Yes | UniProt |
|
RCV001253494 rs1945480328 |
398 | L>P | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576890 COSM3415999 CA6008239 rs201363394 RCV001853828 |
400 | R>C | Hereditary angioedema type 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_027381 | 408 | D>V | HAE1; phenotype consistent with hereditary angioedema type 1 [UniProt] | Yes | UniProt |
|
RCV001258394 rs1945481508 |
412 | I>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000758138 CA380703540 rs1565173405 |
416 | L>* | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000004156 rs1554996817 |
422 | S>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554996819 RCV000004155 CA658658060 |
423 | Y>* | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_007013 | 429 | G>R | HAE1; phenotype consistent with hereditary angioedema type 2 [UniProt] | Yes | UniProt |
|
rs281875174 VAR_068840 CA219249 RCV000059080 |
430 | L>Q | HAE1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs281875175 RCV000059081 VAR_068841 CA219251 |
441 | M>T | HAE1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001334184 rs1590831346 |
442 | Q>E | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA219253 RCV000059082 rs281875176 VAR_068842 |
447 | L>P | HAE1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000598998 rs1554996833 RCV000768685 |
451 | E>missing | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA915948109 rs1590831385 RCV000851276 |
451 | E>N | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs606231141 RCV000004160 |
453 | G>VW | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA116525 rs121907949 VAR_007014 RCV000004159 |
454 | V>E | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor HAE1; phenotype consistent with hereditary angioedema type 2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_007015 | 456 | A>E | HAE1; phenotype consistent with hereditary angioedema type 2 [UniProt] | Yes | UniProt |
|
rs121907947 CA116517 RCV000004151 VAR_007016 |
458 | A>T | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor HAE1; phenotype consistent with hereditary angioedema type 2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000851284 CA380690700 VAR_007017 rs1590831432 |
458 | A>V | Hereditary angioedema type 1 HAE1; phenotype consistent with hereditary angioedema type 2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA380690721 rs763451792 RCV000576893 |
462 | I>S | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000004161 VAR_007018 CA116530 rs121907950 |
465 | A>V | Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor HAE1; phenotype consistent with hereditary angioedema type 2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000768683 RCV000004153 rs28940870 VAR_007019 RCV000059084 CA116521 |
466 | R>C | Hereditary angioedema type 1 Hereditary C1 esterase inhibitor deficiency - dysfunctional factor HAE1; phenotype consistent with hereditary angioedema type 2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002390090 RCV000433404 VAR_007020 CA116519 RCV000768682 rs121907948 RCV002482825 RCV000004152 |
466 | R>H | Hereditary angioedema type 1 Inborn genetic diseases Hereditary C1 esterase inhibitor deficiency - dysfunctional factor HAE1; phenotype consistent with hereditary angioedema type 2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs121907948 RCV000059085 CA219255 VAR_007021 |
466 | R>L | HAE1; phenotype consistent with hereditary angioedema type 2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA116523 VAR_007022 rs28940870 RCV000004154 RCV000059083 |
466 | R>S | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor HAE1; phenotype consistent with hereditary angioedema type 2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1590831472 VAR_007023 CA380690742 |
467 | T>P | HAE1; phenotype consistent with hereditary angioedema type 2 [UniProt] | Yes |
ClinGen Ensembl UniProt |
|
RCV001102619 rs1590831488 |
470 | V>D | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_027382 | 473 | V>E | HAE1; phenotype consistent with hereditary angioedema type 1 [UniProt] | Yes | UniProt |
|
CA219257 RCV000059086 rs281875177 VAR_068843 |
473 | V>G | HAE1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs956390201 RCV000851282 VAR_007024 CA380690781 |
473 | V>M | Hereditary angioedema type 1 HAE1; phenotype consistent with hereditary angioedema type 2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA380690786 RCV000768693 RCV001855976 rs1565174105 |
474 | Q>* | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_007026 | 477 | F>S | HAE1; phenotype consistent with hereditary angioedema type 2 [UniProt] | Yes | UniProt |
|
RCV001513858 rs4926 RCV000616583 CA6008293 RCV000250736 RCV002392753 VAR_007027 |
480 | V>M | Hereditary angioedema type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_007028 | 481 | L>P | HAE1; phenotype consistent with hereditary angioedema type 2 [UniProt] | Yes | UniProt |
| VAR_007029 | 481 | L>R | HAE1; phenotype consistent with hereditary angioedema type 2 [UniProt] | Yes | UniProt |
|
rs1590831545 RCV000851278 CA380690846 |
482 | W>* | Hereditary angioedema type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_007030 | 489 | P>R | HAE1; phenotype consistent with hereditary angioedema type 2 [UniProt] | Yes | UniProt |
| VAR_027383 | 493 | G>E | HAE1; phenotype consistent with hereditary angioedema type 1 [UniProt] | Yes | UniProt |
| VAR_071704 | 493 | G>R | HAE1; phenotype consistent with hereditary angioedema type 2 [UniProt] | Yes | UniProt |
|
CA223024398 RCV000768686 RCV001008644 rs922149386 |
494 | R>* | Hereditary angioedema type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000059087 rs281875178 VAR_068844 CA219259 |
497 | D>G | HAE1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_027384 | 498 | P>R | HAE1; phenotype consistent with hereditary angioedema type 1 [UniProt] | Yes | UniProt |
| VAR_007031 | 498 | P>S | HAE1; phenotype consistent with hereditary angioedema type 2 [UniProt] | Yes | UniProt |
|
rs1313680039 CA380693248 |
4 | R>G | No |
ClinGen gnomAD |
|
|
CA380693263 rs1350080094 |
5 | L>M | No |
ClinGen TOPMed |
|
|
CA6007947 rs765774755 |
7 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1309890814 CA380693306 |
8 | L>P | No |
ClinGen gnomAD |
|
|
CA6007948 rs201455616 |
9 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6007950 rs758453439 |
11 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1242551576 CA380693394 |
15 | L>P | No |
ClinGen gnomAD |
|
|
rs867406954 CA223053553 |
16 | A>D | No |
ClinGen gnomAD |
|
|
rs867100870 CA223053552 |
16 | A>S | No |
ClinGen Ensembl |
|
|
rs867406954 CA380693405 |
16 | A>V | No |
ClinGen gnomAD |
|
|
rs776931359 CA6007963 |
18 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6007965 rs765715943 |
19 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA380694199 rs765715943 |
19 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA6007967 rs750953819 |
20 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6007966 rs750953819 |
20 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1251909277 CA380694221 |
21 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs952441370 CA223053942 |
22 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6007969 rs751621261 |
29 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1490672435 CA380694321 |
30 | S>T | No |
ClinGen gnomAD |
|
|
rs1199122149 CA380694330 |
31 | S>C | No |
ClinGen gnomAD |
|
|
rs150491939 CA223053956 |
32 | Q>L | No |
ClinGen ESP TOPMed |
|
|
rs781444611 CA6007971 |
34 | P>A | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1188764424 CA380694359 |
35 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs755958167 CA223053962 |
37 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371930749 CA380694384 |
37 | L>S | No |
ClinGen gnomAD |
|
|
CA6007974 rs777672189 |
38 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA380694396 rs1239166874 |
38 | Q>P | No |
ClinGen TOPMed |
|
|
CA380694424 rs1366095322 |
40 | R>K | No |
ClinGen gnomAD |
|
|
CA6007975 rs749244898 |
41 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6007977 rs778625408 COSM1225308 |
42 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 45 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143231506 CA6007979 |
45 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775187777 COSM41034 CA6007980 |
46 | A>T | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA380694532 rs1222431723 |
49 | V>I | No |
ClinGen gnomAD |
|
|
rs1289973845 CA380694551 |
50 | I>T | No |
ClinGen gnomAD |
|
|
CA6007983 rs773505671 |
51 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6007982 rs770145075 |
51 | S>T | No |
ClinGen ExAC |
|
|
rs202124207 CA6007986 |
52 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6007985 rs766862937 |
52 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs552068098 CA223054003 |
53 | M>K | No |
ClinGen Ensembl |
|
|
rs1590822371 RCV001008802 |
55 | F>missing | No |
ClinVar dbSNP |
|
|
RCV000599141 rs1554994909 |
56 | V>missing | No |
ClinVar dbSNP |
|
|
rs1010623673 CA223054006 |
56 | V>I | No |
ClinGen gnomAD |
|
|
CA6007990 rs756225075 |
57 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA380694656 rs1450426015 |
59 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753672983 CA6007992 |
59 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1439091233 CA380694693 |
62 | V>I | No |
ClinGen TOPMed |
|
|
rs757332518 CA6007993 |
63 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380783158 CA380694716 |
64 | S>G | No |
ClinGen gnomAD |
|
|
rs1383635080 CA380694733 |
64 | S>R | No |
ClinGen gnomAD |
|
|
CA6007994 rs778966956 |
64 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6007996 rs771637963 |
66 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA223054029 rs924552014 |
69 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 69 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377700094 CA6007999 |
71 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760295555 CA223054035 |
73 | N>D | No |
ClinGen Ensembl |
|
|
CA223054040 rs766021380 |
75 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs766021380 CA6008002 |
75 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs182779591 CA380694878 |
76 | T>N | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA380694897 rs1565169540 |
78 | I>V | No |
ClinGen Ensembl |
|
|
CA380694905 rs1158065234 |
79 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs774944411 CA6008003 |
80 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759037246 CA223054050 |
81 | N>D | No |
ClinGen gnomAD |
|
|
CA380694938 rs1338951477 |
82 | T>I | No |
ClinGen gnomAD |
|
|
CA380694957 rs1451992113 |
84 | D>N | No |
ClinGen gnomAD |
|
|
CA380694980 rs1590822472 |
85 | E>D | No |
ClinGen Ensembl |
|
|
CA380694986 rs1224860126 |
86 | P>A | No |
ClinGen gnomAD |
|
|
CA380694990 rs1222637066 |
86 | P>L | No |
ClinGen TOPMed |
|
|
rs1306681745 CA380694996 |
87 | T>I | No |
ClinGen gnomAD |
|
|
CA6008008 rs368209658 |
88 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs537213106 CA223054072 |
89 | Q>E | No |
ClinGen 1000Genomes |
|
|
CA6008009 rs559223902 |
89 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753730037 CA6008011 |
91 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA223054092 rs888195036 |
92 | T>I | No |
ClinGen TOPMed |
|
|
CA223054093 rs201117780 |
93 | E>G | No |
ClinGen 1000Genomes |
|
|
rs1176573502 CA380695033 |
94 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1176573502 CA380695035 |
94 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA223054097 rs942072497 |
94 | P>T | No |
ClinGen Ensembl |
|
|
rs139702024 CA6008015 |
95 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6008014 rs750408264 |
95 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380695040 rs1244944211 |
96 | T>P | No |
ClinGen gnomAD |
|
|
rs1343652346 CA380695045 |
96 | T>S | No |
ClinGen TOPMed |
|
|
rs868694590 CA223054108 |
99 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 102 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380695086 rs1408667521 |
103 | T>A | No |
ClinGen TOPMed |
|
|
rs1565169610 CA380695091 |
103 | T>I | No |
ClinGen Ensembl |
|
|
CA6008020 rs780799832 |
108 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452471839 CA380695127 |
109 | L>F | No |
ClinGen TOPMed |
|
|
CA380695148 rs1407130108 |
112 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 112 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380695155 rs1322360802 |
113 | S>C | No |
ClinGen gnomAD |
|
|
CA380695197 rs1239945433 |
120 | G>E | No |
ClinGen TOPMed |
|
|
CA380695199 rs1239945433 |
120 | G>V | No |
ClinGen TOPMed |
|
|
CA380695210 rs1307573386 |
122 | F>C | No |
ClinGen gnomAD |
|
|
CA223054126 rs143608058 |
122 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs1203289893 CA380695214 |
123 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1465637711 RCV000850286 CA380695220 |
123 | C>W | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1249531471 CA380695238 |
126 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6008023 rs746401805 |
128 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs775707002 CA6008025 COSM467000 |
129 | L>P | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6008024 rs772446599 |
129 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA223054134 rs373895356 |
131 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA380695265 rs373895356 |
131 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA380695274 rs764462746 |
132 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380695271 rs1347779143 |
132 | D>G | No |
ClinGen TOPMed |
|
|
CA380695279 rs1221230521 |
133 | L>W | No |
ClinGen TOPMed |
|
|
CA6008029 RCV001327035 rs762090349 |
135 | S>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs574615885 CA6008030 |
138 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574615885 CA6008031 |
138 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758424065 CA6008032 |
139 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6008033 rs766192615 |
141 | V>M | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6008034 rs751126649 |
143 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1271564689 CA380695351 |
144 | D>E | No |
ClinGen gnomAD |
|
|
rs1311131058 CA380695346 |
144 | D>H | No |
ClinGen TOPMed |
|
|
rs1311131058 CA380695347 |
144 | D>Y | No |
ClinGen TOPMed |
|
|
rs754504777 CA6008035 |
146 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415913018 CA380695385 |
149 | F>L | No |
ClinGen TOPMed |
|
|
CA380695383 rs1174042702 |
149 | F>S | No |
ClinGen TOPMed |
|
|
CA6008038 rs755705480 |
153 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs139035354 CA6008042 |
156 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM277224 rs139035354 CA6008041 |
156 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1010551511 CA223054163 |
158 | S>A | No |
ClinGen Ensembl |
|
|
CA380695547 rs1388432133 |
168 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA16619349 rs1064793350 RCV000485353 |
171 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA380695577 rs1215435134 |
173 | S>N | No |
ClinGen TOPMed |
|
|
CA223054171 rs1048211407 |
174 | I>V | No |
ClinGen TOPMed |
|
|
rs374218796 CA6008047 |
175 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1403943738 CA380695629 |
177 | L>F | No |
ClinGen gnomAD |
|
|
rs773096282 CA6008048 |
178 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA380695656 rs1345387476 |
179 | T>S | No |
ClinGen gnomAD |
|
|
rs762630842 CA6008049 |
179 | T>S | No |
ClinGen ExAC |
|
|
CA380696645 rs1335168882 |
185 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA380696668 rs1438755529 |
186 | G>R | No |
ClinGen TOPMed |
|
|
rs755577591 CA6008079 |
187 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA380696774 rs1238380874 |
190 | K>R | No |
ClinGen TOPMed |
|
|
CA380696770 rs1238380874 |
190 | K>T | No |
ClinGen TOPMed |
|
|
CA380696797 rs1347573293 |
191 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1347573293 CA380696794 |
191 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781758342 CA6008080 |
194 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781758342 CA380696852 |
194 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000483273 rs1064793266 CA16619350 |
197 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1210966366 CA380696937 |
198 | S>C | No |
ClinGen TOPMed |
|
|
rs1362220560 CA380696984 |
200 | P>H | No |
ClinGen TOPMed |
|
|
rs1197694176 CA380696977 |
200 | P>S | No |
ClinGen gnomAD |
|
|
CA380697077 rs1181534111 |
204 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | C>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769794738 CA6008082 |
209 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 209 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380697210 rs1239850777 |
210 | L>V | No |
ClinGen TOPMed |
|
|
rs61754492 CA6008085 |
214 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61754492 CA6008086 |
214 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6008084 rs749484478 |
214 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376688019 CA6008088 |
216 | K>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1387347122 CA380697340 |
216 | K>Q | No |
ClinGen TOPMed |
|
|
rs775430695 CA6008089 |
219 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6008090 rs760623754 |
221 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA223054674 rs201188641 |
224 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201188641 CA6008091 |
224 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380634888 CA380697542 |
227 | S>N | No |
ClinGen TOPMed |
|
|
CA223054685 rs865782974 |
228 | P>S | No |
ClinGen Ensembl |
|
|
rs1264084207 CA380698527 |
232 | I>L | No |
ClinGen gnomAD |
|
|
CA380698551 rs1486614831 |
233 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs536418257 CA6008113 |
239 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA223055387 rs536418257 |
239 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 240 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6008115 rs139225256 |
241 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6008116 rs555248346 |
242 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380698735 rs1162387864 |
242 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1274355910 CA380698791 |
245 | S>G | No |
ClinGen TOPMed |
|
|
CA380698843 rs1311975943 |
247 | S>C | No |
ClinGen gnomAD |
|
|
rs200558314 CA6008118 RCV001321911 COSM328295 |
250 | V>D | pancreas [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1554995774 RCV000497385 CA380698935 |
251 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA223055393 rs1054942255 |
252 | S>R | No |
ClinGen Ensembl |
|
|
rs1388269725 CA380698981 |
253 | N>S | No |
ClinGen gnomAD |
|
|
rs1338839404 CA380699012 |
254 | N>S | No |
ClinGen gnomAD |
|
|
rs893262278 CA223055395 |
255 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001322154 CA6008122 rs758561591 COSM1178579 |
257 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA380699114 rs1240290746 |
258 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1252669181 CA380699121 |
258 | N>K | No |
ClinGen gnomAD |
|
|
CA380699111 rs1240290746 |
258 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1484049637 CA380699149 |
260 | E>G | No |
ClinGen gnomAD |
|
|
CA380699167 rs1326562515 |
261 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 262 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380699177 rs1326692517 |
262 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1386233194 CA380699185 |
263 | N>H | No |
ClinGen TOPMed |
|
|
rs1590826495 CA380699200 |
264 | T>P | No |
ClinGen Ensembl |
|
|
rs1158186078 CA380699255 |
266 | V>L | No |
ClinGen TOPMed |
|
|
rs746819128 CA6008124 |
268 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1482860201 CA380699325 |
269 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1590826505 CA380699335 |
270 | T>P | No |
ClinGen Ensembl |
|
|
rs1180062081 CA380699391 |
272 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA380699395 rs1252326446 |
272 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 273 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590826509 CA380699456 |
274 | I>T | No |
ClinGen Ensembl |
|
|
rs548701651 COSM1475569 CA6008126 |
276 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs768520560 CA6008125 |
276 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380699514 rs1455871582 |
278 | L>P | No |
ClinGen gnomAD |
|
|
rs1178615272 CA380699535 |
279 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1178615272 CA380699538 |
279 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1463913215 CA380699549 |
280 | S>C | No |
ClinGen TOPMed |
|
|
rs778528986 CA380699562 |
280 | S>R | No |
ClinGen TOPMed |
|
|
rs748055144 CA6008127 |
282 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223055408 rs577040472 |
284 | D>N | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1064793792 RCV000482510 |
286 | R>missing | No |
ClinVar dbSNP |
|
|
CA380699653 rs1392305191 |
286 | R>C | No |
ClinGen gnomAD |
|
|
rs762750068 CA6008130 |
286 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380699659 rs762750068 |
286 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380699657 rs762750068 |
286 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6008131 rs766124386 |
287 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775757014 CA6008132 |
288 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs367707244 CA6008136 |
292 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480947538 CA380699767 |
293 | I>V | No |
ClinGen gnomAD |
|
|
CA6008160 rs751807853 |
298 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6008161 rs755095483 |
300 | K>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380700119 rs755095483 |
300 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380700229 rs1565171840 |
306 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs779712392 CA223055466 |
307 | K>T | No |
ClinGen Ensembl |
|
|
CA223055469 rs1803212 VAR_011751 |
308 | T>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA6008163 rs752534111 |
309 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223055475 rs866038065 |
309 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs777831305 CA6008166 |
312 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777831305 CA6008165 |
312 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380700338 rs1243852802 |
312 | P>S | No |
ClinGen gnomAD |
|
|
RCV000489334 rs1085307611 |
314 | H>missing | No |
ClinVar dbSNP |
|
|
CA6008168 rs778221680 |
314 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6008169 rs745549510 |
317 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990169483 CA223055481 |
319 | V>D | No |
ClinGen Ensembl |
|
|
rs771613203 CA6008170 |
320 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6008171 RCV000861764 rs61761890 |
323 | P>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1388995600 CA380700615 |
324 | M>V | No |
ClinGen gnomAD |
|
|
rs1945411643 RCV001280757 |
327 | S>VP | No |
ClinVar dbSNP |
|
|
rs1463027509 CA380700731 |
328 | K>E | No |
ClinGen TOPMed |
|
|
rs200196138 CA223055485 |
328 | K>N | No |
ClinGen gnomAD |
|
|
rs186658509 CA6008172 |
328 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6008173 rs532337986 |
330 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6008175 rs202192543 |
333 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6008174 rs202192543 |
333 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766491693 CA6008176 |
334 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1040836751 CA223055493 |
334 | H>Y | No |
ClinGen TOPMed |
|
|
rs1225321330 CA380700942 |
336 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 340 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774279611 CA6008177 |
341 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759867416 CA6008178 |
343 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141075266 CA6008218 |
349 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369960628 CA6008219 |
350 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1214891136 CA380702398 |
351 | H>Q | No |
ClinGen TOPMed |
|
|
rs776553402 CA6008220 |
352 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA380702433 rs1269678586 |
354 | S>G | No |
ClinGen TOPMed |
|
|
rs1267639461 CA380702468 |
355 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 356 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223057236 rs957048986 |
356 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA380702495 rs1356552177 |
357 | I>F | No |
ClinGen gnomAD |
|
|
rs1322345200 CA380702501 |
357 | I>T | No |
ClinGen TOPMed |
|
|
CA223057243 rs985864547 |
360 | P>H | No |
ClinGen Ensembl |
|
|
rs989642546 CA223057240 |
360 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6008222 rs765020285 |
362 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6008223 rs150193494 |
364 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762832059 CA6008224 RCV001320682 COSM1492574 |
366 | R>C | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM928662 rs139000758 CA6008225 |
366 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA223057259 rs762832059 |
366 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751040431 CA6008226 |
368 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs372255260 CA6008227 |
369 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372255260 CA380702737 |
369 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA223057278 rs754703814 |
370 | M>I | No |
ClinGen Ensembl |
|
|
rs1458541573 CA380702750 |
370 | M>L | No |
ClinGen gnomAD |
|
|
CA6008228 rs780810244 |
371 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA380702833 rs1085307742 RCV000489312 |
374 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1388922139 CA380702836 |
375 | S>G | No |
ClinGen gnomAD |
|
|
rs1590829718 CA380702839 |
375 | S>T | No |
ClinGen Ensembl |
|
|
rs752336841 CA6008229 |
377 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6008230 rs757566838 |
378 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV001319222 rs779296414 CA6008231 |
381 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA6008232 rs746382640 |
383 | M>L | No |
ClinGen ExAC |
|
| TCGA novel | 384 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778671283 CA223057301 |
384 | E>K | No |
ClinGen Ensembl |
|
|
CA6008233 rs772683510 |
386 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469488853 CA380703047 |
387 | E>Q | No |
ClinGen TOPMed |
|
|
CA380703113 rs1178394893 |
389 | S>P | No |
ClinGen TOPMed |
|
|
RCV000482881 rs1064793917 |
390 | K>missing | No |
ClinVar dbSNP |
|
|
rs1408272304 CA380703160 |
391 | F>L | No |
ClinGen TOPMed |
|
|
rs1417344408 CA380703227 |
393 | P>L | No |
ClinGen TOPMed |
|
|
CA380703251 rs1263290746 |
394 | T>I | No |
ClinGen gnomAD |
|
|
rs368990869 CA6008236 |
395 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368990869 CA380703256 |
395 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368990869 CA380703259 RCV000518886 |
395 | L>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1945480228 RCV001297132 |
396 | L>P | No |
ClinVar dbSNP |
|
|
CA380703317 rs776728490 |
397 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs776728490 CA6008237 |
397 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs773040870 CA6008240 |
400 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380703360 rs773040870 |
400 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256855773 CA380703364 |
401 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1263371770 CA380703370 |
401 | I>T | No |
ClinGen TOPMed |
|
|
rs1256855773 CA380703365 |
401 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6008241 rs369289151 |
403 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373751057 CA6008242 |
404 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA380703400 rs1185207838 |
404 | T>P | No |
ClinGen gnomAD |
|
|
rs373751057 CA6008243 |
404 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777750972 CA6008244 |
405 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755742849 CA6008247 |
407 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs779193350 CA6008248 |
410 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA380703498 rs1403601960 |
411 | S>A | No |
ClinGen gnomAD |
|
|
CA6008249 rs750783890 |
412 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6008251 rs780690190 |
413 | M>L | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA380703526 rs1590829829 |
414 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1228635222 CA380703524 |
414 | E>G | No |
ClinGen gnomAD |
|
|
rs755108467 RCV001311767 |
417 | E>* | No |
ClinVar dbSNP |
|
|
rs755108467 CA223057333 |
417 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755108467 CA6008253 |
417 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 418 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6008266 rs775042436 |
419 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760283415 CA6008267 |
420 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763796718 CA6008268 |
422 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6008270 rs758843446 |
424 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380690261 rs1230994574 |
425 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6008271 rs766780380 |
428 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255090221 CA380690367 |
434 | P>S | No |
ClinGen TOPMed |
|
|
rs748257789 CA6008275 |
438 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867177349 CA380690473 |
440 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA380690468 rs1268775718 |
440 | A>S | No |
ClinGen TOPMed |
|
|
CA380690467 rs1268775718 |
440 | A>T | No |
ClinGen TOPMed |
|
|
CA223024228 rs867177349 |
440 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1590831346 CA380690500 |
442 | Q>K | No |
ClinGen Ensembl |
|
|
rs1590831349 CA380690528 |
443 | H>P | No |
ClinGen Ensembl |
|
|
CA380690542 rs1590831353 |
444 | Q>E | No |
ClinGen Ensembl |
|
|
rs994631849 CA223024240 |
444 | Q>H | No |
ClinGen gnomAD |
|
|
CA6008277 rs778071176 |
446 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380690592 rs1168397543 |
448 | E>Q | No |
ClinGen gnomAD |
|
|
CA380690661 rs1293548359 |
453 | G>A | No |
ClinGen gnomAD |
|
|
rs749446455 CA6008278 |
454 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590831416 CA380690679 |
455 | E>G | No |
ClinGen Ensembl |
|
|
rs770743959 CA6008280 |
456 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6008279 rs770743959 |
456 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380690701 rs1342831518 |
459 | A>T | No |
ClinGen gnomAD |
|
|
rs774928269 CA6008283 |
461 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6008284 rs760216714 |
462 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763451792 CA6008285 |
462 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1235206719 CA380690730 |
464 | V>L | No |
ClinGen gnomAD |
|
|
CA380690741 rs121907948 RCV000490187 |
466 | R>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1328357866 CA380690748 |
468 | L>M | No |
ClinGen gnomAD |
|
|
CA380690753 rs1397220038 |
469 | L>M | No |
ClinGen TOPMed |
|
|
rs1191880919 CA380690756 |
469 | L>P | No |
ClinGen gnomAD |
|
|
rs1590831492 RCV001008176 |
470 | V>missing | No |
ClinVar dbSNP |
|
|
CA380690763 rs1590831488 |
470 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 471 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223024339 rs956390201 |
473 | V>L | No |
ClinGen Ensembl |
|
| VAR_007025 | 474 | Q>E | No | UniProt | |
|
CA223024350 rs987883329 |
478 | L>F | No |
ClinGen TOPMed |
|
|
RCV000994636 rs143997164 CA6008294 |
485 | Q>E | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV000521406 rs1554996859 |
486 | H>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 487 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380690880 rs1459395442 |
487 | K>Q | No |
ClinGen gnomAD |
|
|
rs1254147881 CA380690884 |
487 | K>R | No |
ClinGen TOPMed |
|
|
rs1254147881 CA380690883 |
487 | K>T | No |
ClinGen TOPMed |
|
|
CA380690888 rs1348358787 |
488 | F>V | No |
ClinGen TOPMed |
|
|
rs1434298246 CA380690914 |
491 | F>L | No |
ClinGen gnomAD |
|
|
CA380690917 rs754081837 |
492 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs978962357 RCV000490705 CA223024393 |
492 | M>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs754081837 CA6008295 |
492 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363997186 CA380690930 |
494 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA223024408 rs894494647 |
496 | Y>C | No |
ClinGen TOPMed |
|
|
RCV001351735 CA380690946 rs1290828029 |
497 | D>N | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA380690965 rs1383385545 |
499 | R>S | No |
ClinGen TOPMed |
|
|
CA6008298 rs745670182 |
500 | A>V | No |
ClinGen ExAC gnomAD |
1 associated diseases with P05155
[MIM: 106100]: Angioedema, hereditary (HAE)
An autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional. {ECO:0000269|PubMed:12773530, ECO:0000269|PubMed:1363816, ECO:0000269|PubMed:1451784, ECO:0000269|PubMed:14635117, ECO:0000269|PubMed:16409206, ECO:0000269|PubMed:2118657, ECO:0000269|PubMed:2296585, ECO:0000269|PubMed:22994404, ECO:0000269|PubMed:2365061, ECO:0000269|PubMed:24456027, ECO:0000269|PubMed:3178731, ECO:0000269|PubMed:7814636, ECO:0000269|PubMed:7883978, ECO:0000269|PubMed:8172583, ECO:0000269|PubMed:8529136, ECO:0000269|PubMed:8755917, ECO:0000269|Ref.41}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional. {ECO:0000269|PubMed:12773530, ECO:0000269|PubMed:1363816, ECO:0000269|PubMed:1451784, ECO:0000269|PubMed:14635117, ECO:0000269|PubMed:16409206, ECO:0000269|PubMed:2118657, ECO:0000269|PubMed:2296585, ECO:0000269|PubMed:22994404, ECO:0000269|PubMed:2365061, ECO:0000269|PubMed:24456027, ECO:0000269|PubMed:3178731, ECO:0000269|PubMed:7814636, ECO:0000269|PubMed:7883978, ECO:0000269|PubMed:8172583, ECO:0000269|PubMed:8529136, ECO:0000269|PubMed:8755917, ECO:0000269|Ref.41}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| blood microparticle | A phospholipid microvesicle that is derived from any of several cell types, such as platelets, blood cells, endothelial cells, or others, and contains membrane receptors as well as other proteins characteristic of the parental cell. Microparticles are heterogeneous in size, and are characterized as microvesicles free of nucleic acids. |
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| 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. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| platelet alpha granule lumen | The volume enclosed by the membrane of the platelet alpha granule. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| serine-type endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| 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). |
| blood circulation | The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. |
| blood coagulation | The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. |
| complement activation, classical pathway | Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes. |
| fibrinolysis | A process that solubilizes fibrin in the bloodstream of a multicellular organism, chiefly by the proteolytic action of plasmin. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of complement activation, lectin pathway | Any process that stops, prevents, or reduces the rate of complement activation by the lectin pathway. |
| negative regulation of endopeptidase activity | Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. |
35 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9N2I2 | SERPINA5 | Plasma serine protease inhibitor | Bos taurus (Bovine) | PR |
| P41361 | SERPINC1 | Antithrombin-III | Bos taurus (Bovine) | PR |
| A6QPQ2 | SERPINA3-8 | Serpin A3-8 | Bos taurus (Bovine) | PR |
| A2I7N1 | SERPINA3-5 | Serpin A3-5 | Bos taurus (Bovine) | PR |
| Q1JPB0 | SERPINB1 | Leukocyte elastase inhibitor | Bos taurus (Bovine) | PR |
| P13909 | SERPINE1 | Plasminogen activator inhibitor 1 | Bos taurus (Bovine) | PR |
| Q9TTE1 | SERPINA3-1 | Serpin A3-1 | Bos taurus (Bovine) | PR |
| O73790 | SERPINB10 | Heterochromatin-associated protein MENT | Gallus gallus (Chicken) | PR |
| P01008 | SERPINC1 | Antithrombin-III | Homo sapiens (Human) | PR |
| P05121 | SERPINE1 | Plasminogen activator inhibitor 1 | Homo sapiens (Human) | PR |
| P08697 | SERPINF2 | Alpha-2-antiplasmin | Homo sapiens (Human) | PR |
| Q86WD7 | SERPINA9 | Serpin A9 | Homo sapiens (Human) | PR |
| P01011 | SERPINA3 | Alpha-1-antichymotrypsin | Homo sapiens (Human) | PR |
| P07093 | SERPINE2 | Glia-derived nexin | Homo sapiens (Human) | PR |
| Q9UK55 | SERPINA10 | Protein Z-dependent protease inhibitor | Homo sapiens (Human) | PR |
| Q96P15 | SERPINB11 | Serpin B11 | Homo sapiens (Human) | PR |
| Q5SV42 | Serpinb1c | Leukocyte elastase inhibitor C | Mus musculus (Mouse) | PR |
| Q07235 | Serpine2 | Glia-derived nexin | Mus musculus (Mouse) | PR |
| Q8CDC0 | Serpinb13 | Serpin B13 | Mus musculus (Mouse) | PR |
| P22777 | Serpine1 | Plasminogen activator inhibitor 1 | Mus musculus (Mouse) | PR |
| Q5I2A0 | Serpina3g | Serine protease inhibitor A3G | Mus musculus (Mouse) | PR |
| Q9JK88 | Serpini2 | Serpin I2 | Mus musculus (Mouse) | PR |
| P12388 | Serpinb2 | Plasminogen activator inhibitor 2, macrophage | Mus musculus (Mouse) | PR |
| P32261 | Serpinc1 | Antithrombin-III | Mus musculus (Mouse) | PR |
| Q9D154 | Serpinb1a | Leukocyte elastase inhibitor A | Mus musculus (Mouse) | PR |
| Q8BYY9 | Serpina3b | Serine protease inhibitor A3B | Mus musculus (Mouse) | PR |
| Q80X76 | Serpina3f | Serine protease inhibitor A3F | Mus musculus (Mouse) | PR |
| P29524 | Serpinb2 | Plasminogen activator inhibitor 2 type A | Rattus norvegicus (Rat) | PR |
| P05545 | Serpina3k | Serine protease inhibitor A3K | Rattus norvegicus (Rat) | PR |
| P07092 | Serpine2 | Glia-derived nexin | Rattus norvegicus (Rat) | PR |
| Q62975 | Serpina10 | Protein Z-dependent protease inhibitor | Rattus norvegicus (Rat) | PR |
| Q6P734 | Serping1 | Plasma protease C1 inhibitor | Rattus norvegicus (Rat) | PR |
| Q9ZQR6 | At2g14540 | Serpin-Z2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M1T7 | At3g45220 | Serpin-Z4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O48706 | At2g26390 | Serpin-Z3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASRLTLLTL | LLLLLAGDRA | SSNPNATSSS | SQDPESLQDR | GEGKVATTVI | SKMLFVEPIL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EVSSLPTTNS | TTNSATKITA | NTTDEPTTQP | TTEPTTQPTI | QPTQPTTQLP | TDSPTQPTTG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SFCPGPVTLC | SDLESHSTEA | VLGDALVDFS | LKLYHAFSAM | KKVETNMAFS | PFSIASLLTQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VLLGAGENTK | TNLESILSYP | KDFTCVHQAL | KGFTTKGVTS | VSQIFHSPDL | AIRDTFVNAS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RTLYSSSPRV | LSNNSDANLE | LINTWVAKNT | NNKISRLLDS | LPSDTRLVLL | NAIYLSAKWK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TTFDPKKTRM | EPFHFKNSVI | KVPMMNSKKY | PVAHFIDQTL | KAKVGQLQLS | HNLSLVILVP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QNLKHRLEDM | EQALSPSVFK | AIMEKLEMSK | FQPTLLTLPR | IKVTTSQDML | SIMEKLEFFD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FSYDLNLCGL | TEDPDLQVSA | MQHQTVLELT | ETGVEAAAAS | AISVARTLLV | FEVQQPFLFV |
| 490 | |||||
| LWDQQHKFPV | FMGRVYDPRA |