P01008
PR
Gene name |
SERPINC1 (AT3, PRO0309) |
Protein name |
Antithrombin-III |
Names |
ATIII, Serpin C1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:462 |
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
28 structures for P01008
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1ANT | X-ray | 300 A | I/L | 33-464 | PDB |
| 1ATH | X-ray | 320 A | A/B | 33-464 | PDB |
| 1AZX | X-ray | 290 A | I/L | 33-464 | PDB |
| 1BR8 | X-ray | 290 A | I/L | 33-464 | PDB |
| 1DZG | X-ray | 280 A | I/L | 33-464 | PDB |
| 1DZH | X-ray | 285 A | I/L | 33-464 | PDB |
| 1E03 | X-ray | 290 A | I/L | 33-464 | PDB |
| 1E04 | X-ray | 260 A | I/L | 33-464 | PDB |
| 1E05 | X-ray | 262 A | I/L | 33-464 | PDB |
| 1JVQ | X-ray | 260 A | I/L | 33-464 | PDB |
| 1LK6 | X-ray | 280 A | I/L | 33-464 | PDB |
| 1NQ9 | X-ray | 260 A | I/L | 33-464 | PDB |
| 1OYH | X-ray | 262 A | I/L | 33-464 | PDB |
| 1R1L | X-ray | 270 A | I/L | 33-464 | PDB |
| 1SR5 | X-ray | 310 A | A | 33-464 | PDB |
| 1T1F | X-ray | 275 A | A/B/C | 33-464 | PDB |
| 1TB6 | X-ray | 250 A | I | 33-464 | PDB |
| 2ANT | X-ray | 260 A | I/L | 33-464 | PDB |
| 2B4X | X-ray | 280 A | I/L | 37-463 | PDB |
| 2B5T | X-ray | 210 A | I | 33-464 | PDB |
| 2BEH | X-ray | 270 A | I/L | 33-464 | PDB |
| 2GD4 | X-ray | 330 A | C/I | 22-464 | PDB |
| 2HIJ | X-ray | 290 A | I/L | 33-464 | PDB |
| 2ZNH | X-ray | 280 A | A/B | 33-464 | PDB |
| 3EVJ | X-ray | 300 A | I/L | 33-464 | PDB |
| 3KCG | X-ray | 170 A | I | 33-464 | PDB |
| 4EB1 | X-ray | 280 A | I/L | 33-464 | PDB |
| AF-P01008-F1 | Predicted | AlphaFoldDB |
462 variants for P01008
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001101594 CA1251493 rs61736655 |
10 | T>N | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001210419 CA343779044 rs1445653081 |
11 | S>T | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs531137446 CA1251475 RCV001101593 |
16 | V>A | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_027450 | 17 | Y>S | AT3D; type-I [UniProt] | Yes | UniProt |
|
VAR_012748 rs387906575 RCV000019656 CA210793 |
23 | L>P | Hereditary antithrombin deficiency AT3D; type-I; does not undergo post-translational glycosylation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000852239 CA325653 rs2227624 VAR_007032 RCV000857628 RCV000852240 RCV000019628 |
30 | V>E | Thromboembolism Hereditary antithrombin deficiency Dublin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_027451 | 32 | C>R | AT3D; type-I [UniProt] | Yes | UniProt |
|
rs483352844 RCV000087279 |
39 | I>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121909558 VAR_007033 RCV000019637 CA210770 |
39 | I>N | Hereditary antithrombin deficiency AT3D; type-II; Rouen-3; lack of heparin-binding properties [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000852036 rs1572092103 |
52 | M>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_071199 | 53 | C>F | AT3D [UniProt] | Yes | UniProt |
|
VAR_007035 RCV000019638 CA210772 RCV000420779 rs28929469 |
56 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary antithrombin deficiency AT3D; type-II; Rouen-4; lack of heparin-binding properties [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000851716 rs1572092076 |
59 | E>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA210756 RCV001090508 rs121909551 RCV000019627 VAR_007036 |
73 | P>L | Hereditary antithrombin deficiency AT3D; type-II; lacks heparin-binding ability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs774294043 RCV001101592 CA1251448 |
78 | R>Q | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA210748 rs121909547 VAR_007037 RCV000019620 |
79 | R>C | Hereditary antithrombin deficiency AT3D; Tours/Alger/Amiens/Toyama/Paris-1/Paris-2/Padua-2/Barcelona-2/Kumamoto/Omura/Sasebo; lacks heparin-binding ability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs121909552 CA210758 RCV002054451 RCV000019630 VAR_007038 COSM899818 |
79 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium Hereditary antithrombin deficiency AT3D; type-II; Rouen-1/Padua-1/Bligny/Budapest-2; lack of heparin-binding properties [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000019631 CA210760 VAR_007039 rs121909547 |
79 | R>S | Hereditary antithrombin deficiency AT3D; type-II; Rouen-2; lack of heparin-binding properties [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_007040 | 87 | N>del | AT3D; type-I [UniProt] | Yes | UniProt |
|
CA1251446 VAR_007041 rs147266200 |
89 | R>C | AT3D; type-I [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
| VAR_007042 | 90 | F>L | AT3D; type-I; Budapest-6 [UniProt] | Yes | UniProt |
|
CA32782248 COSM677066 VAR_027452 rs907768931 |
95 | Y>C | lung Variant assessed as Somatic; impact. AT3D; type-I [Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated UniProt NCI-TCGA TOPMed dbSNP |
|
rs1657913203 RCV001298024 |
95 | Y>H | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_012316 | 95 | Y>S | AT3D; type-I [UniProt] | Yes | UniProt |
| VAR_027453 | 98 | L>P | AT3D; type-I [UniProt] | Yes | UniProt |
|
rs369524182 CA1251444 RCV001101591 RCV000786221 |
100 | D>G | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000852112 rs1572091831 |
108 | I>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_007043 | 108 | I>del | AT3D; type-I [UniProt] | Yes | UniProt |
| VAR_086227 | 112 | P>S | AT3D; severely decreased antithrombin activity [UniProt] | Yes | UniProt |
| VAR_007044 | 112 | P>T | AT3D; type-I [UniProt] | Yes | UniProt |
|
RCV001045955 rs1657909645 |
114 | S>N | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371222224 RCV000798956 CA1251434 |
121 | M>I | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_027454 | 121 | M>K | AT3D; type-I [UniProt] | Yes | UniProt |
| VAR_071200 | 125 | G>D | AT3D [UniProt] | Yes | UniProt |
|
RCV000019660 CA210802 rs121909573 VAR_027455 |
127 | C>R | Hereditary antithrombin deficiency AT3D; type-I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000851769 rs121909567 RCV001543498 RCV000019650 VAR_007045 CA210787 |
131 | L>F | Hereditary antithrombin deficiency AT3D; type-II; Budapest-3/Budapest-7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_007046 | 131 | L>V | AT3D; type-II; Southport [UniProt] | Yes | UniProt |
|
rs1572091783 RCV000851776 |
133 | Q>* | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854019 RCV000226993 CA10581758 |
133 | Q>H | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA343777221 rs1411331203 VAR_007047 |
133 | Q>K | AT3D; type I [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
rs1657792806 RCV001212288 |
137 | V>A | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_007048 | 138 | F>del | AT3D; type-I [UniProt] | Yes | UniProt |
|
rs1572090368 RCV000818759 |
139 | K>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_027456 CA343776822 rs1170430756 |
146 | K>E | AT3D; Dreux; complete loss af heparin binding [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
CA210791 rs121909569 RCV000019655 VAR_007049 |
148 | S>P | Hereditary antithrombin deficiency AT3D; type-II; Nagasaki; defective heparin binding associated with thrombosis [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000819059 rs1572090305 |
150 | Q>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810125 rs765445413 CA1251409 RCV002284206 VAR_007050 |
150 | Q>P | Hereditary antithrombin deficiency AT3D; type-II; Vienna [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_007051 | 152 | H>Y | AT3D; type-I [UniProt] | Yes | UniProt |
| VAR_012749 | 152 | H>del | AT3D; type-I [UniProt] | Yes | UniProt |
|
CA150680 RCV000087283 rs483352848 |
153 | F>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_007052 | 153 | F>del | AT3D; type-I [UniProt] | Yes | UniProt |
|
rs786204063 RCV000167937 |
155 | F>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_007053 | 158 | L>P | AT3D; type-I [UniProt] | Yes | UniProt |
| VAR_027457 | 160 | C>Y | AT3D; type-I [UniProt] | Yes | UniProt |
|
CA210776 rs121909562 RCV000019645 RCV001588819 |
161 | R>* | Variant assessed as Somatic; impact. Hereditary antithrombin deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA210779 VAR_007054 RCV000019646 rs121909563 |
161 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary antithrombin deficiency AT3D; type-II; Geneva [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1657788029 RCV001246103 |
162 | L>P | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000087284 rs483352850 |
163 | Y>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA150684 rs483352852 RCV000087285 |
164 | R>Q | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000019657 rs121909570 CA210795 VAR_012750 |
167 | N>T | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000087286 rs483352851 CA150687 |
169 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_071201 | 170 | S>P | AT3D [UniProt] | Yes | UniProt |
|
CA1251403 RCV000635206 rs143521873 |
177 | R>C | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000229849 rs878854020 CA10581757 |
177 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary antithrombin deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_027458 | 178 | L>H | AT3D; type-I [UniProt] | Yes | UniProt |
| VAR_027459 | 179 | F>L | AT3D; type-I [UniProt] | Yes | UniProt |
|
rs483352847 RCV000818141 CA343776467 |
179 | F>S | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs483352847 RCV000087287 CA150690 |
179 | F>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572090173 RCV000852159 |
185 | T>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635204 rs574547491 CA1251401 |
185 | T>A | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
VAR_007056 rs1425532034 CA343776220 |
198 | Y>C | AT3D; type-I and -II; Whitechapel [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
VAR_027460 RCV000852166 rs1572090114 CA343776228 |
198 | Y>H | Hereditary antithrombin deficiency AT3D; type-I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs778341415 RCV002475988 RCV000497666 CA1251396 |
199 | G>R | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000087288 CA150693 rs483352853 |
200 | A>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_027461 | 214 | S>F | AT3D; type-I [UniProt] | Yes | UniProt |
|
rs483352854 VAR_007057 CA150697 RCV000087290 RCV002514538 |
214 | S>Y | Tuberous sclerosis 2 Hereditary antithrombin deficiency AT3D; type-I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_071202 | 218 | I>N | AT3D [UniProt] | Yes | UniProt |
| VAR_027462 | 218 | I>del | AT3D; type-I [UniProt] | Yes | UniProt |
|
CA210798 rs121909571 VAR_007059 RCV000019658 |
219 | N>D | Hereditary antithrombin deficiency AT3D; type-II; Rouen-6; increases affinity for heparin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
| VAR_007058 | 219 | N>K | AT3D; type-II; Glasgow-3 [UniProt] | Yes | UniProt |
|
CA343775678 RCV000504564 rs1553218111 |
221 | W>S | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1657744293 RCV001351166 |
222 | V>E | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA210800 rs121909572 VAR_027463 RCV000019659 |
223 | S>P | Hereditary antithrombin deficiency AT3D; type-I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000232555 CA1251358 rs749510661 |
239 | I>T | Variant assessed as Somatic; 0.0 impact. Hereditary antithrombin deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_086197 | 241 | E>VLVLVNTRTS | AT3D; severely decreased antithrombin activity; low affinity for heparin [UniProt] | Yes | UniProt |
| VAR_027464 | 243 | T>I | AT3D; type-I [UniProt] | Yes | UniProt |
| VAR_071203 | 248 | V>G | AT3D [UniProt] | Yes | UniProt |
|
CA343775292 rs1423630663 VAR_027465 |
251 | I>T | AT3D; type-I [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
rs1572088865 RCV000799362 |
256 | L>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572088853 RCV000852207 |
256 | L>* | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_027466 | 257 | W>R | AT3D; type-I [UniProt] | Yes | UniProt |
|
rs1572088837 RCV000019642 |
261 | F>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_027467 | 261 | F>L | AT3D [UniProt] | Yes | UniProt |
|
CA343774745 RCV000851889 rs1572088824 |
266 | T>K | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000851891 rs1572088823 |
268 | K>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758087836 RCV000471250 VAR_007060 CA1251332 |
269 | E>K | Hereditary antithrombin deficiency AT3D; type-II; Truro; increases affinity for heparin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_007061 | 273 | K>del | AT3D; type-I [UniProt] | Yes | UniProt |
|
RCV000851895 rs1572088775 |
277 | E>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1657694750 RCV001235412 |
277 | E>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_007062 | 283 | M>I | AT3D; type-II [UniProt] | Yes | UniProt |
| VAR_027468 | 283 | M>V | AT3D; type-II [UniProt] | Yes | UniProt |
|
RCV000851901 rs1572088737 CA343774544 |
284 | M>K | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA150699 rs483352857 RCV000087291 |
285 | Y>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
rs1404578967 RCV001206737 |
287 | E>V | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764695432 RCV001319826 CA1251324 |
291 | R>C | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_071204 | 293 | R>P | AT3D [UniProt] | Yes | UniProt |
|
CA211882 rs372820797 RCV001099621 |
296 | A>P | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_007063 | 302 | L>P | AT3D; type-I [UniProt] | Yes | UniProt |
|
RCV000733370 rs549991084 RCV000866943 CA1251311 |
305 | P>H | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1657686098 RCV001041950 |
316 | I>F | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_007064 | 316 | I>N | AT3D; type-II; Haslar/Whitechapel [UniProt] | Yes | UniProt |
|
rs1460568494 RCV000851915 CA343774114 |
318 | P>L | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000019643 rs121909560 |
323 | S>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_027469 | 323 | S>P | AT3D [UniProt] | Yes | UniProt |
|
RCV000205675 rs567550044 CA349809 |
332 | T>I | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_007065 | 334 | E>K | AT3D; type-II [UniProt] | Yes | UniProt |
|
CA150667 rs483352856 RCV001857426 RCV000087276 |
339 | W>* | Tuberous sclerosis 2 Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs121909561 RCV000019644 |
341 | D>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_007066 | 344 | E>del | AT3D; type-I [UniProt] | Yes | UniProt |
|
RCV000087277 rs483352855 |
345 | E>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10608814 RCV000375162 rs886045594 |
352 | M>V | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000197842 rs863224495 |
354 | R>missing | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693135 rs765761813 CA343773662 |
354 | R>C | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1251288 RCV001097815 rs376752370 COSM1225293 |
356 | R>C | pancreas large_intestine Hereditary antithrombin deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000336934 CA1251281 rs565091601 |
366 | Q>E | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1657673747 RCV001054938 |
367 | L>V | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121909565 RCV000019648 VAR_007067 CA210783 |
381 | S>P | Hereditary antithrombin deficiency AT3D; type-I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_086198 | 384 | P>PVFLP | AT3D [UniProt] | Yes | UniProt |
|
RCV000233293 rs878854018 CA10581756 |
385 | G>D | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070670 CA343772853 rs1449772752 |
386 | I>T | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs201541724 RCV001097814 VAR_007068 CA32779432 |
391 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary antithrombin deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_027470 | 397 | S>P | AT3D; type-I [UniProt] | Yes | UniProt |
| VAR_027471 | 398 | D>H | AT3D; type-I [UniProt] | Yes | UniProt |
| VAR_071205 | 401 | H>R | AT3D [UniProt] | Yes | UniProt |
|
rs920003404 RCV001247799 |
402 | K>N | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000087280 CA150675 rs483352859 |
405 | L>I | Tuberous sclerosis 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_027472 | 412 | S>R | AT3D; type-I [UniProt] | Yes | UniProt |
|
VAR_007069 CA210768 RCV000019636 rs121909557 |
414 | A>T | Hereditary antithrombin deficiency AT3D; type-II; Hamilton/Glasgow-2; reduces interaction with thrombin by 90% [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_007070 CA210750 rs121909548 RCV000019623 |
416 | A>P | Hereditary antithrombin deficiency AT3D; type-II; Charleville/Sudbury/Vicenza/Cambridge-1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs121909548 RCV000249153 VAR_007071 RCV000019639 RCV000857698 RCV001270536 CA211880 |
416 | A>S | Hereditary antithrombin deficiency AT3D; type-II; Cambridge-2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000019654 VAR_007072 CA210789 rs121909568 |
419 | A>V | Hereditary antithrombin deficiency AT3D; type-I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001243857 CA1251223 rs772809607 |
422 | I>T | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs121909566 CA210785 VAR_007073 RCV000019649 |
424 | G>D | Variant assessed as Somatic; impact. Hereditary antithrombin deficiency AT3D; type-II; Stockholm [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs121909554 CA210762 VAR_007075 RCV000019632 |
425 | R>C | Hereditary antithrombin deficiency AT3D; type-II [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000019635 VAR_007074 rs121909549 CA210766 |
425 | R>H | Hereditary antithrombin deficiency AT3D; type-II; Glasgow/Sheffield/Chicago/Avranches/Kumamoto-2; increases affinity for heparin; deprived of inhibitory activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
VAR_007076 CA210752 rs121909549 RCV000019625 |
425 | R>P | Hereditary antithrombin deficiency AT3D; type-II; Pescara; deprived of inhibitory of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
COSM76381 rs121909550 CA210754 VAR_007077 RCV000019626 |
426 | S>L | ovary Variant assessed as Somatic; impact. Hereditary antithrombin deficiency AT3D; type-II; Denver/Milano-2; deprived of inhibitory activity [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP |
|
rs1572084546 RCV000852011 VAR_007078 CA343772451 |
434 | F>C | Hereditary antithrombin deficiency AT3D; type-II; Rosny [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_007080 | 434 | F>L | AT3D; type-II; Maisons-Laffite [UniProt] | Yes | UniProt |
| VAR_007079 | 434 | F>S | AT3D; type-II; Torino [UniProt] | Yes | UniProt |
|
CA210746 RCV000019619 VAR_007081 rs121909546 |
436 | A>T | Hereditary antithrombin deficiency AT3D; type-II; Oslo/Paris-3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA343772391 VAR_007082 rs1301351856 |
437 | N>K | AT3D; type-II; La Rochelle [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
| VAR_009258 | 438 | R>G | AT3D; type I and type-II [UniProt] | Yes | UniProt |
| VAR_007083 | 438 | R>M | AT3D; type-II; Kyoto [UniProt] | Yes | UniProt |
|
RCV001231167 VAR_071206 rs1487411568 |
439 | P>A | Hereditary antithrombin deficiency AT3D [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000019633 rs121909555 VAR_007084 CA210764 |
439 | P>L | Hereditary antithrombin deficiency AT3D; type-II; Utah; deprived of inhibitory activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000852018 rs1487411568 RCV000635203 CA343772365 COSM899809 |
439 | P>S | Variant assessed as Somatic; impact. endometrium Hereditary antithrombin deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
COSM899810 rs1487411568 RCV000852017 VAR_007085 CA343772370 |
439 | P>T | endometrium AT3D; type-II; Budapest-5 [Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
VAR_027473 CA343772331 rs1188571702 |
441 | L>P | AT3D; type-II [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
CA1251217 RCV001097813 rs376029223 |
448 | P>S | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_007086 | 453 | I>T | AT3D; type-I [UniProt] | Yes | UniProt |
| VAR_007087 | 456 | G>R | AT3D; type-I; severely decreased antithrombin activity [UniProt] | Yes | UniProt |
| VAR_007088 | 457 | R>T | AT3D; type-II [UniProt] | Yes | UniProt |
|
CA343772066 RCV000851691 VAR_007090 rs1572084448 |
459 | A>D | Hereditary antithrombin deficiency AT3D; type-I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_007089 | 459 | A>del | AT3D; type-I [UniProt] | Yes | UniProt |
|
RCV000019647 CA210781 rs121909564 VAR_007091 |
461 | P>L | Hereditary antithrombin deficiency AT3D; type-II; Budapest [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_007092 | 462 | C>F | AT3D; type-I [UniProt] | Yes | UniProt |
|
CA343771985 rs1572084425 RCV000852020 |
465 | K>Q | Hereditary antithrombin deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199469506 CA32783342 |
2 | Y>* | No |
ClinGen Ensembl |
|
| TCGA novel | 2 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343779117 rs1393755038 |
4 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA343779118 rs1393755038 |
4 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748072934 CA1251498 |
5 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA32783336 rs750709130 |
5 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs753713846 CA1251496 |
6 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA1251495 rs753713846 |
6 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs779790099 CA1251494 |
9 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32783331 rs967432692 |
10 | T>A | No |
ClinGen Ensembl |
|
|
rs1202691195 CA343779028 |
12 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA32782378 rs986804201 |
16 | V>I | No |
ClinGen Ensembl |
|
|
CA1251474 rs780733720 |
17 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs369828221 CA1251473 |
20 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1211286118 CA343778515 |
24 | I>T | No |
ClinGen gnomAD |
|
|
CA343778485 COSM1473014 rs1165816584 |
27 | W>R | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA343778454 rs1233588688 |
29 | C>R | No |
ClinGen Ensembl |
|
|
rs1557904316 CA343778451 |
29 | C>S | No |
ClinGen Ensembl |
|
|
rs532883680 CA1251470 |
30 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1251469 rs147676453 |
33 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1251467 rs773254902 |
34 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173535550 CA343778373 |
36 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA343778357 rs145771113 |
38 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs145771113 CA1251466 |
38 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1307013919 CA343778333 |
40 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 42 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1251465 rs761729771 COSM899820 |
43 | K>N | endometrium Variant assessed as Somatic; 9.247e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA343778281 rs1291914956 |
44 | P>L | No |
ClinGen gnomAD |
|
|
rs749308643 CA1251462 |
45 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768704768 CA1251463 |
45 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769761264 CA1251460 |
48 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 49 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343778238 rs1199990064 |
49 | M>V | No |
ClinGen gnomAD |
|
|
CA343778223 rs1433461494 |
50 | N>D | No |
ClinGen gnomAD |
|
|
CA1251459 rs745698642 |
51 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 52 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs892712171 VAR_007034 CA32782320 |
52 | M>T | previously Whitechapel [UniProt] | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
RCV000852038 CA343778180 rs1572092099 |
53 | C>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs756940594 CA1251457 |
54 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs780670128 CA1251458 |
54 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA343778166 rs1572092092 |
55 | Y>H | No |
ClinGen Ensembl |
|
|
CA1251456 COSM899819 rs777405542 |
56 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs777405542 CA343778148 |
56 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550247582 CA1251455 |
58 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343778133 rs550247582 |
58 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343778121 rs1572092063 |
59 | E>G | No |
ClinGen Ensembl |
|
|
rs1572092042 CA343778046 |
65 | D>E | No |
ClinGen Ensembl |
|
|
rs936295966 CA32782304 |
65 | D>N | No |
ClinGen TOPMed |
|
|
rs1572092031 CA343778032 |
66 | E>D | No |
ClinGen Ensembl |
|
|
CA1251451 rs377500819 |
69 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377500819 CA32782298 |
69 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA32782296 rs1050200480 |
70 | Q>R | No |
ClinGen TOPMed |
|
|
rs199469505 CA32782294 |
71 | K>* | No |
ClinGen Ensembl |
|
|
CA343777945 rs1572091985 |
72 | I>V | No |
ClinGen Ensembl |
|
|
CA343777896 rs1297895835 |
75 | A>T | No |
ClinGen TOPMed |
|
|
rs948537396 CA32782290 |
76 | T>I | No |
ClinGen TOPMed |
|
|
rs948537396 CA343777868 |
76 | T>S | No |
ClinGen TOPMed |
|
|
rs374205395 CA1251449 |
78 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 80 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000761687 CA343777805 rs1557904209 |
82 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA343777783 rs1180794147 |
84 | S>P | No |
ClinGen gnomAD |
|
|
rs775520108 CA343777734 |
88 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs775520108 CA1251447 |
88 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1251445 rs745583962 COSM3400011 |
89 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA343777696 rs1253973125 |
92 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 96 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343777644 rs1477930440 |
96 | Q>R | No |
ClinGen TOPMed |
|
|
rs199895690 CA1251443 |
101 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199895690 CA1251442 COSM1336380 |
101 | S>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA343777583 rs1287865349 |
102 | K>E | No |
ClinGen gnomAD |
|
|
CA32782236 rs933978627 |
102 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs200118419 CA1251441 |
104 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA343777546 rs1335457606 |
105 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs778100368 CA1251439 CA32782219 |
105 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1251440 rs757851817 |
105 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1280660055 CA343777537 |
106 | D>N | No |
ClinGen gnomAD |
|
|
CA343777529 rs1452345419 |
106 | D>V | No |
ClinGen TOPMed |
|
|
rs1458529321 CA343777522 |
107 | N>D | No |
ClinGen gnomAD |
|
|
rs921356636 CA32782213 |
108 | I>V | No |
ClinGen Ensembl |
|
|
rs1412230387 CA343777485 |
110 | L>M | No |
ClinGen gnomAD |
|
|
rs139392083 CA1251436 |
117 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253864431 CA343777341 |
122 | T>I | No |
ClinGen gnomAD |
|
|
CA343777329 rs1572091801 |
123 | K>N | No |
ClinGen Ensembl |
|
|
rs1288553458 CA343777334 |
123 | K>R | No |
ClinGen gnomAD |
|
|
rs1572091795 CA343777255 |
130 | T>P | No |
ClinGen Ensembl |
|
|
rs1572091776 CA343777191 |
135 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 139 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746430769 CA1251415 |
141 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs532353637 CA1251414 |
142 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343776840 rs1323710554 |
143 | I>T | No |
ClinGen gnomAD |
|
|
rs571861448 CA1251412 |
143 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343776831 rs1363092061 |
145 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1251411 VAR_013085 rs2227606 |
147 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA32781318 rs752818145 |
149 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1251410 rs752818145 |
149 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA32781312 rs984788625 COSM677067 |
153 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs121909563 CA1251406 |
161 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs483352850 | 163 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32781302 rs199469504 |
164 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA343776596 rs121909570 |
167 | N>S | No |
ClinGen TOPMed |
|
|
CA343776575 rs1195137809 |
169 | S>P | No |
ClinGen TOPMed |
|
|
CA1251404 rs771696386 |
170 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1572090239 CA343776558 |
171 | K>E | No |
ClinGen Ensembl |
|
|
CA343776548 rs1572090234 |
171 | K>N | No |
ClinGen Ensembl |
|
|
CA32781294 rs998100507 |
173 | V>A | No |
ClinGen Ensembl |
|
|
CA343776513 rs1221281557 |
175 | A>T | No |
ClinGen gnomAD |
|
|
CA343776496 rs1486340427 |
176 | N>S | No |
ClinGen Ensembl |
|
|
rs143521873 CA343776489 |
177 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1251402 rs773822689 |
179 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA343776439 rs1343122410 |
181 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA343776449 rs1386584523 |
181 | D>H | No |
ClinGen TOPMed |
|
|
CA343776344 rs1572090152 |
189 | T>S | No |
ClinGen Ensembl |
|
| VAR_007055 | 190 | Y>C | variant of uncertain significance [UniProt] | No | UniProt |
|
CA1251400 rs748774160 |
190 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1131691435 RCV000492935 CA343776322 |
191 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA343776294 rs1572090134 |
193 | I>V | No |
ClinGen Ensembl |
|
|
CA343776244 rs1572090123 |
196 | L>F | No |
ClinGen Ensembl |
|
|
rs781696456 CA343776252 |
196 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415961702 CA343776236 |
197 | V>A | No |
ClinGen gnomAD |
|
|
CA343776242 rs771347278 |
197 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1251398 rs771347278 |
197 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446489329 CA343776202 |
199 | G>A | No |
ClinGen TOPMed |
|
|
CA1251395 rs748428859 |
200 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 200 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1251394 rs748428859 |
200 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1251393 rs779025291 |
201 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343776182 rs1260270341 |
201 | K>Q | No |
ClinGen Ensembl |
|
|
rs1239621033 CA343776140 |
203 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267598176 CA32780967 |
209 | E>K | No |
ClinGen Ensembl |
|
|
rs1304180155 CA343775872 |
211 | A>T | No |
ClinGen gnomAD |
|
|
rs756016928 CA1251372 |
212 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750413071 CA1251371 |
216 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968019175 CA32780938 |
217 | A>T | No |
ClinGen TOPMed |
|
|
rs1572089576 CA343775726 |
218 | I>M | No |
ClinGen Ensembl |
|
|
rs146733468 CA32780927 |
224 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs146733468 CA343775616 RCV001027531 |
224 | N>Y | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA343775569 rs1572089542 |
227 | E>K | No |
ClinGen Ensembl |
|
|
CA1251366 COSM1689222 rs775062927 |
229 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1182206367 CA343775514 |
231 | T>I | No |
ClinGen gnomAD |
|
|
rs773814831 CA1251363 |
232 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA343775510 rs773814831 |
232 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 233 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 235 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1251362 rs772710258 |
235 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs368419985 CA1251361 |
236 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769911947 CA32780913 |
236 | S>P | No |
ClinGen Ensembl |
|
|
rs768914754 CA1251359 |
238 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 239 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1251357 rs200861147 |
240 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1251356 rs769820027 |
244 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA343775314 rs1171952099 |
249 | N>D | No |
ClinGen TOPMed |
|
|
rs751357562 CA1251352 |
250 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1251351 rs144084678 |
250 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs993457876 CA32780897 |
254 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343774828 rs868179720 |
255 | G>R | No |
ClinGen gnomAD |
|
|
rs868179720 CA32780460 |
255 | G>S | No |
ClinGen gnomAD |
|
|
rs1177819835 CA343774820 |
256 | L>P | No |
ClinGen gnomAD |
|
|
CA1251333 rs777786232 |
262 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA343774718 rs1572088807 |
270 | L>P | No |
ClinGen Ensembl |
|
|
CA343774679 rs1257439220 |
273 | K>Q | No |
ClinGen gnomAD |
|
|
CA343774666 rs1234376857 |
274 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1572088795 CA343774662 |
274 | A>V | No |
ClinGen Ensembl |
|
|
rs1572088778 CA343774630 |
277 | E>Q | No |
ClinGen Ensembl |
|
|
rs778650224 CA1251330 |
278 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572088756 CA343774592 |
280 | S>P | No |
ClinGen Ensembl |
|
|
CA343774574 rs1230780708 |
281 | A>V | No |
ClinGen gnomAD |
|
|
CA343774556 rs1351719487 |
283 | M>T | No |
ClinGen gnomAD |
|
|
rs1328255386 CA343774528 |
285 | Y>D | No |
ClinGen gnomAD |
|
|
rs139463995 CA1251327 |
286 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366478661 CA343774498 |
287 | E>* | No |
ClinGen gnomAD |
|
|
rs1404578967 CA343774496 |
287 | E>G | No |
ClinGen gnomAD |
|
|
CA343774457 rs1303675024 |
290 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA343774447 CA343774445 rs370190321 |
290 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1251323 rs377588972 |
291 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343774442 rs764695432 |
291 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759821949 CA1251320 |
292 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1251321 rs769991153 |
292 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA343774418 rs776662899 |
293 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1251318 rs572313182 |
293 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1251319 rs776662899 COSM899814 |
293 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM899813 rs747142328 CA1251317 |
294 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
RCV000144053 CA233131 rs587776397 |
294 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV000144054 CA233134 rs587776397 |
294 | R>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs201381904 CA1251315 |
295 | V>M | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1572088644 CA343774377 |
297 | E>A | No |
ClinGen Ensembl |
|
|
rs1358176214 CA343774354 |
299 | T>S | No |
ClinGen TOPMed |
|
|
rs1228716628 CA343774332 |
300 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs549991084 CA1251312 |
305 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343774246 rs1404267784 |
308 | G>S | No |
ClinGen gnomAD |
|
|
rs749956661 CA343774223 |
309 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764455436 CA1251309 |
312 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1251307 rs753056696 |
313 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765632646 CA1251306 |
314 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA343774162 rs765632646 |
314 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs759734009 CA1251305 |
318 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA343774103 rs1183741597 |
319 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 320 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776791729 CA1251304 |
320 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA343774085 rs1210937889 |
321 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA343774053 rs1465655544 |
323 | S>G | No |
ClinGen gnomAD |
|
|
rs766626880 CA1251303 |
324 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA343774033 rs1203910858 |
325 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1572088566 CA343774022 |
326 | K>E | No |
ClinGen Ensembl |
|
|
rs773399107 CA1251301 |
327 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs979120581 CA32780315 |
328 | E>G | No |
ClinGen Ensembl |
|
|
rs1159957668 CA343773997 |
328 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 328 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300143747 CA343773983 |
329 | K>E | No |
ClinGen gnomAD |
|
|
rs1300143747 CA343773985 |
329 | K>Q | No |
ClinGen gnomAD |
|
|
rs1557902194 CA343773979 |
329 | K>T | No |
ClinGen Ensembl |
|
|
CA343773957 rs1199286246 |
331 | L>V | No |
ClinGen Ensembl |
|
|
CA343773914 rs1317476052 |
334 | E>D | No |
ClinGen gnomAD |
|
|
CA343773908 CA343773910 rs1398879157 |
335 | V>L | No |
ClinGen gnomAD |
|
|
CA343773912 rs1398879157 |
335 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 336 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs5878 CA343773877 |
337 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343773852 rs483352856 |
339 | W>S | No |
ClinGen gnomAD |
|
|
rs755808418 CA1251295 |
341 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA343773827 rs755808418 |
341 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA343773819 rs1241894139 |
342 | E>K | No |
ClinGen gnomAD |
|
|
rs745357314 CA1251294 |
343 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA343773790 rs780821947 |
344 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA343773788 rs1572088476 |
344 | E>A | No |
ClinGen Ensembl |
|
|
CA1251293 rs780821947 |
344 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA343773780 rs1448465871 |
345 | E>K | No |
ClinGen TOPMed |
|
|
CA343773773 rs1278755102 |
345 | E>V | No |
ClinGen TOPMed |
|
|
CA343773752 rs1010218433 CA32780266 |
346 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs758801372 CA1251292 |
346 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322183862 CA343773733 |
347 | M>I | No |
ClinGen TOPMed |
|
|
CA343773745 rs1357405388 |
347 | M>L | No |
ClinGen gnomAD |
|
|
CA32780255 rs960126155 |
351 | H>Y | No |
ClinGen Ensembl |
|
|
rs758316459 CA1251289 |
354 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1251290 rs765761813 |
354 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1035744320 CA32780236 |
355 | F>V | No |
ClinGen gnomAD |
|
|
CA1251287 rs373515340 COSM1336377 |
356 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA32780230 rs373515340 |
356 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761024265 CA1251286 |
357 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA343773625 rs1410177368 |
360 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs767683540 CA1251284 COSM530915 |
360 | G>S | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1251283 rs762004419 |
362 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA343773614 rs1166491615 |
362 | S>R | No |
ClinGen gnomAD |
|
|
rs1344897371 CA343773607 |
363 | L>M | No |
ClinGen Ensembl |
|
|
CA1251282 rs774393305 |
365 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA343773581 rs1388596932 |
366 | Q>L | No |
ClinGen gnomAD |
|
|
rs1429252444 CA343773573 |
368 | Q>* | No |
ClinGen TOPMed |
|
|
CA343773562 rs1254068236 |
369 | D>G | No |
ClinGen gnomAD |
|
|
CA1251280 rs762780270 |
369 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1205385856 CA343773558 |
370 | M>V | No |
ClinGen gnomAD |
|
|
CA343773534 rs1437440717 |
373 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs775413132 CA1251279 COSM208077 |
374 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775413132 CA343773530 |
374 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1251278 rs149006854 |
375 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780549243 CA1251276 |
382 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770381981 CA1251275 |
384 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 384 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560610974 CA32779447 |
387 | V>I | No |
ClinGen 1000Genomes |
|
|
CA1251258 rs770580443 |
390 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1251257 rs746504812 |
393 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1251256 rs777327592 |
395 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1251253 rs372611817 |
398 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749848792 CA1251254 |
398 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 399 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756459428 CA1251252 |
403 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1251251 rs540730281 |
406 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1572084667 CA343772699 |
407 | V>G | No |
ClinGen Ensembl |
|
|
CA343772655 rs1462427026 |
413 | E>D | No |
ClinGen TOPMed |
|
|
CA1251230 rs747288413 |
413 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1251228 rs752730597 |
417 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1251227 rs765204251 |
418 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1251225 rs552064073 |
419 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1417243660 CA343772621 |
420 | V>A | No |
ClinGen gnomAD |
|
|
CA32777291 rs372319633 |
420 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1251224 rs372319633 |
420 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1490351825 CA343772607 |
422 | I>M | No |
ClinGen gnomAD |
|
|
CA32777281 rs1008874845 |
423 | A>T | No |
ClinGen gnomAD |
|
|
rs121909550 CA343772578 |
426 | S>W | No |
ClinGen TOPMed |
|
|
CA1251219 rs746402824 |
430 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1303385277 CA343772459 |
434 | F>V | No |
ClinGen gnomAD |
|
|
CA343772334 rs1397435458 |
441 | L>V | No |
ClinGen gnomAD |
|
|
CA343772306 rs1467100566 |
443 | F>L | No |
ClinGen gnomAD |
|
|
rs777118044 CA1251218 |
444 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 445 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32777234 rs368586812 |
447 | V>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA343772199 rs1178405461 |
449 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1251216 rs747412993 |
450 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs758603270 CA1251214 |
452 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359392415 CA343772133 |
454 | F>C | No |
ClinGen TOPMed |
|
|
CA343772112 rs1428211184 |
455 | M>I | No |
ClinGen TOPMed |
|
|
CA1251213 rs748251829 |
457 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1251211 rs754917785 |
458 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 462 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with P01008
[MIM: 613118]: Antithrombin III deficiency (AT3D)
An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I
Without disease ID
- An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I
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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| heparin binding | Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. |
| identical protein binding | Binding to an identical protein or proteins. |
| protease binding | Binding to a protease or a peptidase. |
| 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. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| negative regulation of endopeptidase activity | Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. |
| regulation of blood coagulation, intrinsic pathway | Any process that modulates the frequency, rate or extent of blood coagulation, intrinsic pathway. |
35 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9N2I2 | SERPINA5 | Plasma serine protease inhibitor | 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 |
| P41361 | SERPINC1 | Antithrombin-III | Bos taurus (Bovine) | PR |
| O73790 | SERPINB10 | Heterochromatin-associated protein MENT | Gallus gallus (Chicken) | PR |
| P08697 | SERPINF2 | Alpha-2-antiplasmin | Homo sapiens (Human) | PR |
| Q96P15 | SERPINB11 | Serpin B11 | Homo sapiens (Human) | PR |
| Q9UK55 | SERPINA10 | Protein Z-dependent protease inhibitor | Homo sapiens (Human) | PR |
| P05121 | SERPINE1 | Plasminogen activator inhibitor 1 | Homo sapiens (Human) | PR |
| P05155 | SERPING1 | Plasma protease C1 inhibitor | 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 |
| 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 |
| 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 |
| P32261 | Serpinc1 | Antithrombin-III | Mus musculus (Mouse) | PR |
| P29524 | Serpinb2 | Plasminogen activator inhibitor 2 type A | Rattus norvegicus (Rat) | PR |
| Q6P734 | Serping1 | Plasma protease C1 inhibitor | 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 |
| O48706 | At2g26390 | Serpin-Z3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M1T7 | At3g45220 | Serpin-Z4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQR6 | At2g14540 | Serpin-Z2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MYSNVIGTVT | SGKRKVYLLS | LLLIGFWDCV | TCHGSPVDIC | TAKPRDIPMN | PMCIYRSPEK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KATEDEGSEQ | KIPEATNRRV | WELSKANSRF | ATTFYQHLAD | SKNDNDNIFL | SPLSISTAFA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MTKLGACNDT | LQQLMEVFKF | DTISEKTSDQ | IHFFFAKLNC | RLYRKANKSS | KLVSANRLFG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DKSLTFNETY | QDISELVYGA | KLQPLDFKEN | AEQSRAAINK | WVSNKTEGRI | TDVIPSEAIN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELTVLVLVNT | IYFKGLWKSK | FSPENTRKEL | FYKADGESCS | ASMMYQEGKF | RYRRVAEGTQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VLELPFKGDD | ITMVLILPKP | EKSLAKVEKE | LTPEVLQEWL | DELEEMMLVV | HMPRFRIEDG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FSLKEQLQDM | GLVDLFSPEK | SKLPGIVAEG | RDDLYVSDAF | HKAFLEVNEE | GSEAAASTAV |
| 430 | 440 | 450 | 460 | ||
| VIAGRSLNPN | RVTFKANRPF | LVFIREVPLN | TIIFMGRVAN | PCVK |