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Protein

Antithrombin-III

Gene

SERPINC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei81Heparin1
Binding sitei161Heparin1
Binding sitei177Heparin1
Sitei425 – 426Reactive bond2

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHeparin-binding, Protease inhibitor, Serine protease inhibitor
Biological processBlood coagulation, Hemostasis

Enzyme and pathway databases

ReactomeiR-HSA-140837 Intrinsic Pathway of Fibrin Clot Formation
R-HSA-140875 Common Pathway of Fibrin Clot Formation
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
SIGNORiP01008

Protein family/group databases

MEROPSiI04.018

Names & Taxonomyi

Protein namesi
Recommended name:
Antithrombin-III
Short name:
ATIII
Alternative name(s):
Serpin C1
Gene namesi
Name:SERPINC1
Synonyms:AT3
ORF Names:PRO0309
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000117601.13
HGNCiHGNC:775 SERPINC1
MIMi107300 gene
neXtProtiNX_P01008

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Antithrombin III deficiency (AT3D)38 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations.
See also OMIM:613118
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02745017Y → S in AT3D; type-I. 1 Publication1
Natural variantiVAR_01274823L → P in AT3D; type-I; does not undergo post-translational glycosylation. 2 PublicationsCorresponds to variant dbSNP:rs387906575EnsemblClinVar.1
Natural variantiVAR_02745132C → R in AT3D; type-I. 1 Publication1
Natural variantiVAR_00703339I → N in AT3D; type-II; Rouen-3; lack of heparin-binding properties. 1 PublicationCorresponds to variant dbSNP:rs121909558EnsemblClinVar.1
Natural variantiVAR_07119953C → F in AT3D. 1 Publication1
Natural variantiVAR_00703556R → C in AT3D; type-II; Rouen-4; lack of heparin-binding properties. 2 PublicationsCorresponds to variant dbSNP:rs28929469EnsemblClinVar.1
Natural variantiVAR_00703673P → L in AT3D; type-II; lacks heparin-binding ability. 4 PublicationsCorresponds to variant dbSNP:rs121909551EnsemblClinVar.1
Natural variantiVAR_00703779R → C in AT3D; Tours/Alger/Amiens/Toyama/Paris-1/Paris-2/Padua-2/Barcelona-2/Kumamoto/Omura/Sasebo; lacks heparin-binding ability. 3 PublicationsCorresponds to variant dbSNP:rs121909547EnsemblClinVar.1
Natural variantiVAR_00703879R → H in AT3D; type-II; Rouen-1/Padua-1/Bligny/Budapest-2; lack of heparin-binding properties. 2 PublicationsCorresponds to variant dbSNP:rs121909552EnsemblClinVar.1
Natural variantiVAR_00703979R → S in AT3D; type-II; Rouen-2; lack of heparin-binding properties. 1 PublicationCorresponds to variant dbSNP:rs121909547EnsemblClinVar.1
Natural variantiVAR_00704087Missing in AT3D; type-I. 1 Publication1
Natural variantiVAR_00704189R → C in AT3D; type-I. 1 PublicationCorresponds to variant dbSNP:rs147266200Ensembl.1
Natural variantiVAR_00704290F → L in AT3D; type-I; Budapest-6. 1 Publication1
Natural variantiVAR_02745295Y → C in AT3D; type-I. 1 PublicationCorresponds to variant dbSNP:rs907768931Ensembl.1
Natural variantiVAR_01231695Y → S in AT3D; type-I. 2 Publications1
Natural variantiVAR_02745398L → P in AT3D; type-I. 1 Publication1
Natural variantiVAR_007043108 – 109Missing in AT3D; type-I. 2
Natural variantiVAR_007044112P → T in AT3D; type-I. 2 Publications1
Natural variantiVAR_027454121M → K in AT3D; type-I. 1 Publication1
Natural variantiVAR_071200125G → D in AT3D. 1 Publication1
Natural variantiVAR_027455127C → R in AT3D; type-I. 1 PublicationCorresponds to variant dbSNP:rs121909573EnsemblClinVar.1
Natural variantiVAR_007045131L → F in AT3D; type-II; Budapest-3/Budapest-7. 2 PublicationsCorresponds to variant dbSNP:rs121909567EnsemblClinVar.1
Natural variantiVAR_007046131L → V in AT3D; type-II; Southport. 2 Publications1
Natural variantiVAR_007047133Q → K in AT3D; type I. 1 PublicationCorresponds to variant dbSNP:rs1411331203Ensembl.1
Natural variantiVAR_007048138 – 139Missing in AT3D; type-I. 1 Publication2
Natural variantiVAR_027456146K → E in AT3D; Dreux; complete loss af heparin binding. 1 PublicationCorresponds to variant dbSNP:rs1170430756Ensembl.1
Natural variantiVAR_007049148S → P in AT3D; type-II; Nagasaki; defective heparin binding associated with thrombosis. 2 PublicationsCorresponds to variant dbSNP:rs121909569EnsemblClinVar.1
Natural variantiVAR_007050150Q → P in AT3D; type-II; Vienna. 2 PublicationsCorresponds to variant dbSNP:rs765445413Ensembl.1
Natural variantiVAR_012749152 – 154Missing in AT3D; type-I. 1 Publication3
Natural variantiVAR_007051152H → Y in AT3D; type-I. 1 Publication1
Natural variantiVAR_007052153Missing in AT3D; type-I. 1
Natural variantiVAR_007053158L → P in AT3D; type-I. 1 Publication1
Natural variantiVAR_027457160C → Y in AT3D; type-I. 2 Publications1
Natural variantiVAR_007054161R → Q in AT3D; type-II; Geneva. 2 PublicationsCorresponds to variant dbSNP:rs121909563EnsemblClinVar.1
Natural variantiVAR_071201170S → P in AT3D. 1 Publication1
Natural variantiVAR_027458178L → H in AT3D; type-I. 1 Publication1
Natural variantiVAR_027459179F → L in AT3D; type-I. 1 Publication1
Natural variantiVAR_007056198Y → C in AT3D; type-I and -II; Whitechapel. 1 PublicationCorresponds to variant dbSNP:rs1425532034Ensembl.1
Natural variantiVAR_027460198Y → H in AT3D; type-I. 2 Publications1
Natural variantiVAR_027461214S → F in AT3D; type-I. 1 Publication1
Natural variantiVAR_007057214S → Y in AT3D; type-I. Corresponds to variant dbSNP:rs483352854EnsemblClinVar.1
Natural variantiVAR_071202218I → N in AT3D. 1 Publication1
Natural variantiVAR_027462218Missing in AT3D; type-I. 1 Publication1
Natural variantiVAR_007059219N → D in AT3D; type-II; Rouen-6; increases affinity for heparin. 2 PublicationsCorresponds to variant dbSNP:rs121909571EnsemblClinVar.1
Natural variantiVAR_007058219N → K in AT3D; type-II; Glasgow-3. 1 Publication1
Natural variantiVAR_027463223S → P in AT3D; type-I. 2 PublicationsCorresponds to variant dbSNP:rs121909572EnsemblClinVar.1
Natural variantiVAR_027464243T → I in AT3D; type-I. 1 Publication1
Natural variantiVAR_071203248V → G in AT3D. 1 Publication1
Natural variantiVAR_027465251I → T in AT3D; type-I. 1 PublicationCorresponds to variant dbSNP:rs1423630663Ensembl.1
Natural variantiVAR_027466257W → R in AT3D; type-I. 2 Publications1
Natural variantiVAR_027467261F → L in AT3D. 1 Publication1
Natural variantiVAR_007060269E → K in AT3D; type-II; Truro; increases affinity for heparin. 1 PublicationCorresponds to variant dbSNP:rs758087836EnsemblClinVar.1
Natural variantiVAR_007061273 – 307Missing in AT3D; type-I. 1 PublicationAdd BLAST35
Natural variantiVAR_007062283M → I in AT3D; type-II. 2 Publications1
Natural variantiVAR_027468283M → V in AT3D; type-II. 1 Publication1
Natural variantiVAR_071204293R → P in AT3D. 1 Publication1
Natural variantiVAR_007063302L → P in AT3D; type-I. 1
Natural variantiVAR_007064316I → N in AT3D; type-II; Haslar/Whitechapel. 1 Publication1
Natural variantiVAR_027469323S → P in AT3D. 1
Natural variantiVAR_007065334E → K in AT3D; type-II. 1 Publication1
Natural variantiVAR_007066344Missing in AT3D; type-I. 1
Natural variantiVAR_007067381S → P in AT3D; type-I. Corresponds to variant dbSNP:rs121909565EnsemblClinVar.1
Natural variantiVAR_027470397S → P in AT3D; type-I. 1 Publication1
Natural variantiVAR_027471398D → H in AT3D; type-I. 1 Publication1
Natural variantiVAR_071205401H → R in AT3D. 1 Publication1
Natural variantiVAR_027472412S → R in AT3D; type-I. 2 Publications1
Natural variantiVAR_007069414A → T in AT3D; type-II; Hamilton/Glasgow-2; reduces interaction with thrombin by 90%. 4 PublicationsCorresponds to variant dbSNP:rs121909557EnsemblClinVar.1
Natural variantiVAR_007070416A → P in AT3D; type-II; Charleville/Sudbury/Vicenza/Cambridge-1. 1 PublicationCorresponds to variant dbSNP:rs121909548EnsemblClinVar.1
Natural variantiVAR_007071416A → S in AT3D; type-II; Cambridge-2. 2 PublicationsCorresponds to variant dbSNP:rs121909548EnsemblClinVar.1
Natural variantiVAR_007072419A → V in AT3D; type-I. 1 PublicationCorresponds to variant dbSNP:rs121909568EnsemblClinVar.1
Natural variantiVAR_007073424G → D in AT3D; type-II; Stockholm. 2 PublicationsCorresponds to variant dbSNP:rs121909566EnsemblClinVar.1
Natural variantiVAR_007075425R → C in AT3D; type-II. 5 PublicationsCorresponds to variant dbSNP:rs121909554EnsemblClinVar.1
Natural variantiVAR_007074425R → H in AT3D; type-II; Glasgow/Sheffield/Chicago/Avranches/Kumamoto-2; increases affinity for heparin; deprived of inhibitory activity. 5 PublicationsCorresponds to variant dbSNP:rs121909549EnsemblClinVar.1
Natural variantiVAR_007076425R → P in AT3D; type-II; Pescara; deprived of inhibitory of activity. 1 PublicationCorresponds to variant dbSNP:rs121909549EnsemblClinVar.1
Natural variantiVAR_007077426S → L in AT3D; type-II; Denver/Milano-2; deprived of inhibitory activity. 3 PublicationsCorresponds to variant dbSNP:rs121909550EnsemblClinVar.1
Natural variantiVAR_007078434F → C in AT3D; type-II; Rosny. 1 Publication1
Natural variantiVAR_007080434F → L in AT3D; type-II; Maisons-Laffite. 1 Publication1
Natural variantiVAR_007079434F → S in AT3D; type-II; Torino. 1 Publication1
Natural variantiVAR_007081436A → T in AT3D; type-II; Oslo/Paris-3. 1 PublicationCorresponds to variant dbSNP:rs121909546EnsemblClinVar.1
Natural variantiVAR_007082437N → K in AT3D; type-II; La Rochelle. 1 PublicationCorresponds to variant dbSNP:rs1301351856Ensembl.1
Natural variantiVAR_009258438R → G in AT3D; type I and type-II. 2 Publications1
Natural variantiVAR_007083438R → M in AT3D; type-II; Kyoto. 2 Publications1
Natural variantiVAR_071206439P → A in AT3D. 1 Publication1
Natural variantiVAR_007084439P → L in AT3D; type-II; Utah; deprived of inhibitory activity. 2 PublicationsCorresponds to variant dbSNP:rs121909555EnsemblClinVar.1
Natural variantiVAR_007085439P → T in AT3D; type-II; Budapest-5. 1 PublicationCorresponds to variant dbSNP:rs1487411568Ensembl.1
Natural variantiVAR_027473441L → P in AT3D; type-II. 1 PublicationCorresponds to variant dbSNP:rs1188571702Ensembl.1
Natural variantiVAR_007086453I → T in AT3D; type-I. 2 Publications1
Natural variantiVAR_007087456G → R in AT3D; type-I. 2 Publications1
Natural variantiVAR_007088457R → T in AT3D; type-II. 1 Publication1
Natural variantiVAR_007089459 – 461Missing in AT3D; type-I. 3
Natural variantiVAR_007090459A → D in AT3D; type-I. 1 Publication1
Natural variantiVAR_007091461P → L in AT3D; type-II; Budapest. 1 PublicationCorresponds to variant dbSNP:rs121909564EnsemblClinVar.1
Natural variantiVAR_007092462C → F in AT3D; type-I. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi414A → K: Reduces interaction with thrombin by 99%. 1 Publication1
Mutagenesisi414A → Q: Reduces interaction with thrombin by 80%. 1 Publication1

Keywords - Diseasei

Disease mutation, Thrombophilia

Organism-specific databases

DisGeNETi462
MalaCardsiSERPINC1
MIMi613118 phenotype
OpenTargetsiENSG00000117601
Orphaneti82 Hereditary thrombophilia due to congenital antithrombin deficiency
PharmGKBiPA35026

Chemistry databases

ChEMBLiCHEMBL1950
DrugBankiDB11598 Antithrombin III human
DB00407 Ardeparin
DB06779 Dalteparin
DB01225 Enoxaparin
DB00569 Fondaparinux sodium
DB01109 Heparin
DB04464 N-Formylmethionine
DB08813 Nadroparin
DB05361 SR-123781A
DB06271 Sulodexide
DB06822 Tinzaparin
GuidetoPHARMACOLOGYi2632

Polymorphism and mutation databases

BioMutaiSERPINC1
DMDMi113936

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 321 PublicationAdd BLAST32
ChainiPRO_000003248933 – 464Antithrombin-IIIAdd BLAST432

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi40 ↔ 1601 Publication
Disulfide bondi53 ↔ 1271 Publication
Modified residuei63Phosphothreonine; by FAM20C1 Publication1
Modified residuei68Phosphoserine; by FAM20CCombined sources1 Publication1
Glycosylationi128N-linked (GlcNAc...) asparagine4 Publications1
Glycosylationi167N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi187N-linked (GlcNAc...) (complex) asparagine6 Publications1
Glycosylationi224N-linked (GlcNAc...) asparagine3 Publications1
Disulfide bondi279 ↔ 4621 Publication

Post-translational modificationi

Phosphorylated by FAM20C in the extracellular medium.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP01008
MaxQBiP01008
PaxDbiP01008
PeptideAtlasiP01008
PRIDEiP01008
ProteomicsDBi12609
51299

2D gel databases

DOSAC-COBS-2DPAGEiP01008
REPRODUCTION-2DPAGEiP01008
SWISS-2DPAGEiP01008

PTM databases

CarbonylDBiP01008
GlyConnecti766
iPTMnetiP01008
PhosphoSitePlusiP01008
UniCarbKBiP01008

Miscellaneous databases

PMAP-CutDBiP01008

Expressioni

Tissue specificityi

Found in plasma.

Gene expression databases

BgeeiENSG00000117601 Expressed in 84 organ(s), highest expression level in right lobe of liver
CleanExiHS_SERPINC1
ExpressionAtlasiP01008 baseline and differential
GenevisibleiP01008 HS

Organism-specific databases

HPAiCAB016790
HPA001816
HPA024007

Interactioni

Subunit structurei

Forms protease inhibiting heterodimer with TMPRSS7.

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106953, 16 interactors
DIPiDIP-38009N
IntActiP01008, 5 interactors
STRINGi9606.ENSP00000356671

Chemistry databases

BindingDBiP01008

Structurei

Secondary structure

1464
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP01008
SMRiP01008
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP01008

Family & Domainsi

Sequence similaritiesi

Belongs to the serpin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2392 Eukaryota
COG4826 LUCA
GeneTreeiENSGT00900000140788
HOVERGENiHBG005957
InParanoidiP01008
KOiK03911
OMAiKFRYRRV
OrthoDBiEOG091G0ION
PhylomeDBiP01008
TreeFamiTF343094

Family and domain databases

CDDicd02045 antithrombin-III_like, 1 hit
InterProiView protein in InterPro
IPR033829 Antithrombin_domain
IPR015555 AT-III
IPR023795 Serpin_CS
IPR023796 Serpin_dom
IPR000215 Serpin_fam
IPR036186 Serpin_sf
PANTHERiPTHR11461 PTHR11461, 1 hit
PTHR11461:SF53 PTHR11461:SF53, 1 hit
PfamiView protein in Pfam
PF00079 Serpin, 1 hit
SMARTiView protein in SMART
SM00093 SERPIN, 1 hit
SUPFAMiSSF56574 SSF56574, 1 hit
PROSITEiView protein in PROSITE
PS00284 SERPIN, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P01008-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MYSNVIGTVT SGKRKVYLLS LLLIGFWDCV TCHGSPVDIC TAKPRDIPMN
60 70 80 90 100
PMCIYRSPEK KATEDEGSEQ KIPEATNRRV WELSKANSRF ATTFYQHLAD
110 120 130 140 150
SKNDNDNIFL SPLSISTAFA MTKLGACNDT LQQLMEVFKF DTISEKTSDQ
160 170 180 190 200
IHFFFAKLNC RLYRKANKSS KLVSANRLFG DKSLTFNETY QDISELVYGA
210 220 230 240 250
KLQPLDFKEN AEQSRAAINK WVSNKTEGRI TDVIPSEAIN ELTVLVLVNT
260 270 280 290 300
IYFKGLWKSK FSPENTRKEL FYKADGESCS ASMMYQEGKF RYRRVAEGTQ
310 320 330 340 350
VLELPFKGDD ITMVLILPKP EKSLAKVEKE LTPEVLQEWL DELEEMMLVV
360 370 380 390 400
HMPRFRIEDG FSLKEQLQDM GLVDLFSPEK SKLPGIVAEG RDDLYVSDAF
410 420 430 440 450
HKAFLEVNEE GSEAAASTAV VIAGRSLNPN RVTFKANRPF LVFIREVPLN
460
TIIFMGRVAN PCVK
Length:464
Mass (Da):52,602
Last modified:July 21, 1986 - v1
Checksum:i9A4E324F00683D9D
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q8TCE1Q8TCE1_HUMAN
Antithrombin-III
SERPINC1
259Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti69 – 70EQ → QE AA sequence (Ref. 10) Curated2
Sequence conflicti77N → NN in BAA06212 (Ref. 3) Curated1
Sequence conflicti97H → R in AAG35525 (Ref. 5) Curated1
Sequence conflicti120A → T in BAG35537 (PubMed:14702039).Curated1
Sequence conflicti226T → A in BAG35537 (PubMed:14702039).Curated1
Sequence conflicti247 – 249Missing AA sequence (Ref. 10) Curated3
Sequence conflicti388Missing AA sequence (PubMed:7734359).Curated1
Sequence conflicti395Y → YA AA sequence (PubMed:7734359).Curated1

Mass spectrometryi

Molecular mass is 57863 Da from positions 33 - 464. Determined by ESI. 1 Publication
Molecular mass is 57911 Da from positions 33 - 464. Determined by ESI. Variant Thr-414.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02745017Y → S in AT3D; type-I. 1 Publication1
Natural variantiVAR_01274823L → P in AT3D; type-I; does not undergo post-translational glycosylation. 2 PublicationsCorresponds to variant dbSNP:rs387906575EnsemblClinVar.1
Natural variantiVAR_00703230V → E in Dublin. 4 PublicationsCorresponds to variant dbSNP:rs2227624EnsemblClinVar.1
Natural variantiVAR_02745132C → R in AT3D; type-I. 1 Publication1
Natural variantiVAR_00703339I → N in AT3D; type-II; Rouen-3; lack of heparin-binding properties. 1 PublicationCorresponds to variant dbSNP:rs121909558EnsemblClinVar.1
Natural variantiVAR_00703452M → T Previously Whitechapel. 1 PublicationCorresponds to variant dbSNP:rs892712171Ensembl.1
Natural variantiVAR_07119953C → F in AT3D. 1 Publication1
Natural variantiVAR_00703556R → C in AT3D; type-II; Rouen-4; lack of heparin-binding properties. 2 PublicationsCorresponds to variant dbSNP:rs28929469EnsemblClinVar.1
Natural variantiVAR_00703673P → L in AT3D; type-II; lacks heparin-binding ability. 4 PublicationsCorresponds to variant dbSNP:rs121909551EnsemblClinVar.1
Natural variantiVAR_00703779R → C in AT3D; Tours/Alger/Amiens/Toyama/Paris-1/Paris-2/Padua-2/Barcelona-2/Kumamoto/Omura/Sasebo; lacks heparin-binding ability. 3 PublicationsCorresponds to variant dbSNP:rs121909547EnsemblClinVar.1
Natural variantiVAR_00703879R → H in AT3D; type-II; Rouen-1/Padua-1/Bligny/Budapest-2; lack of heparin-binding properties. 2 PublicationsCorresponds to variant dbSNP:rs121909552EnsemblClinVar.1
Natural variantiVAR_00703979R → S in AT3D; type-II; Rouen-2; lack of heparin-binding properties. 1 PublicationCorresponds to variant dbSNP:rs121909547EnsemblClinVar.1
Natural variantiVAR_00704087Missing in AT3D; type-I. 1 Publication1
Natural variantiVAR_00704189R → C in AT3D; type-I. 1 PublicationCorresponds to variant dbSNP:rs147266200Ensembl.1
Natural variantiVAR_00704290F → L in AT3D; type-I; Budapest-6. 1 Publication1
Natural variantiVAR_02745295Y → C in AT3D; type-I. 1 PublicationCorresponds to variant dbSNP:rs907768931Ensembl.1
Natural variantiVAR_01231695Y → S in AT3D; type-I. 2 Publications1
Natural variantiVAR_02745398L → P in AT3D; type-I. 1 Publication1
Natural variantiVAR_007043108 – 109Missing in AT3D; type-I. 2
Natural variantiVAR_007044112P → T in AT3D; type-I. 2 Publications1
Natural variantiVAR_027454121M → K in AT3D; type-I. 1 Publication1
Natural variantiVAR_071200125G → D in AT3D. 1 Publication1
Natural variantiVAR_027455127C → R in AT3D; type-I. 1 PublicationCorresponds to variant dbSNP:rs121909573EnsemblClinVar.1
Natural variantiVAR_007045131L → F in AT3D; type-II; Budapest-3/Budapest-7. 2 PublicationsCorresponds to variant dbSNP:rs121909567EnsemblClinVar.1
Natural variantiVAR_007046131L → V in AT3D; type-II; Southport. 2 Publications1
Natural variantiVAR_007047133Q → K in AT3D; type I. 1 PublicationCorresponds to variant dbSNP:rs1411331203Ensembl.1
Natural variantiVAR_007048138 – 139Missing in AT3D; type-I. 1 Publication2
Natural variantiVAR_027456146K → E in AT3D; Dreux; complete loss af heparin binding. 1 PublicationCorresponds to variant dbSNP:rs1170430756Ensembl.1
Natural variantiVAR_013085147T → A1 PublicationCorresponds to variant dbSNP:rs2227606Ensembl.1
Natural variantiVAR_007049148S → P in AT3D; type-II; Nagasaki; defective heparin binding associated with thrombosis. 2 PublicationsCorresponds to variant dbSNP:rs121909569EnsemblClinVar.1
Natural variantiVAR_007050150Q → P in AT3D; type-II; Vienna. 2 PublicationsCorresponds to variant dbSNP:rs765445413Ensembl.1
Natural variantiVAR_012749152 – 154Missing in AT3D; type-I. 1 Publication3
Natural variantiVAR_007051152H → Y in AT3D; type-I. 1 Publication1
Natural variantiVAR_007052153Missing in AT3D; type-I. 1
Natural variantiVAR_007053158L → P in AT3D; type-I. 1 Publication1
Natural variantiVAR_027457160C → Y in AT3D; type-I. 2 Publications1
Natural variantiVAR_007054161R → Q in AT3D; type-II; Geneva. 2 PublicationsCorresponds to variant dbSNP:rs121909563EnsemblClinVar.1
Natural variantiVAR_012750167N → T1 PublicationCorresponds to variant dbSNP:rs121909570EnsemblClinVar.1
Natural variantiVAR_071201170S → P in AT3D. 1 Publication1
Natural variantiVAR_027458178L → H in AT3D; type-I. 1 Publication1
Natural variantiVAR_027459179F → L in AT3D; type-I. 1 Publication1
Natural variantiVAR_007055190Y → C Polymorphism in population of Scandinavian origin. 2 Publications1
Natural variantiVAR_007056198Y → C in AT3D; type-I and -II; Whitechapel. 1 PublicationCorresponds to variant dbSNP:rs1425532034Ensembl.1
Natural variantiVAR_027460198Y → H in AT3D; type-I. 2 Publications1
Natural variantiVAR_027461214S → F in AT3D; type-I. 1 Publication1
Natural variantiVAR_007057214S → Y in AT3D; type-I. Corresponds to variant dbSNP:rs483352854EnsemblClinVar.1
Natural variantiVAR_071202218I → N in AT3D. 1 Publication1
Natural variantiVAR_027462218Missing in AT3D; type-I. 1 Publication1
Natural variantiVAR_007059219N → D in AT3D; type-II; Rouen-6; increases affinity for heparin. 2 PublicationsCorresponds to variant dbSNP:rs121909571EnsemblClinVar.1
Natural variantiVAR_007058219N → K in AT3D; type-II; Glasgow-3. 1 Publication1
Natural variantiVAR_027463223S → P in AT3D; type-I. 2 PublicationsCorresponds to variant dbSNP:rs121909572EnsemblClinVar.1
Natural variantiVAR_027464243T → I in AT3D; type-I. 1 Publication1
Natural variantiVAR_071203248V → G in AT3D. 1 Publication1
Natural variantiVAR_027465251I → T in AT3D; type-I. 1 PublicationCorresponds to variant dbSNP:rs1423630663Ensembl.1
Natural variantiVAR_027466257W → R in AT3D; type-I. 2 Publications1
Natural variantiVAR_027467261F → L in AT3D. 1 Publication1
Natural variantiVAR_007060269E → K in AT3D; type-II; Truro; increases affinity for heparin. 1 PublicationCorresponds to variant dbSNP:rs758087836EnsemblClinVar.1
Natural variantiVAR_007061273 – 307Missing in AT3D; type-I. 1 PublicationAdd BLAST35
Natural variantiVAR_007062283M → I in AT3D; type-II. 2 Publications1
Natural variantiVAR_027468283M → V in AT3D; type-II. 1 Publication1
Natural variantiVAR_071204293R → P in AT3D. 1 Publication1
Natural variantiVAR_007063302L → P in AT3D; type-I. 1
Natural variantiVAR_007064316I → N in AT3D; type-II; Haslar/Whitechapel. 1 Publication1
Natural variantiVAR_027469323S → P in AT3D. 1
Natural variantiVAR_007065334E → K in AT3D; type-II. 1 Publication1
Natural variantiVAR_007066344Missing in AT3D; type-I. 1
Natural variantiVAR_007067381S → P in AT3D; type-I. Corresponds to variant dbSNP:rs121909565EnsemblClinVar.1
Natural variantiVAR_007068391R → Q. Corresponds to variant dbSNP:rs201541724Ensembl.1
Natural variantiVAR_027470397S → P in AT3D; type-I. 1 Publication1
Natural variantiVAR_027471398D → H in AT3D; type-I. 1 Publication1
Natural variantiVAR_071205401H → R in AT3D. 1 Publication1
Natural variantiVAR_027472412S → R in AT3D; type-I. 2 Publications1
Natural variantiVAR_007069414A → T in AT3D; type-II; Hamilton/Glasgow-2; reduces interaction with thrombin by 90%. 4 PublicationsCorresponds to variant dbSNP:rs121909557EnsemblClinVar.1
Natural variantiVAR_007070416A → P in AT3D; type-II; Charleville/Sudbury/Vicenza/Cambridge-1. 1 PublicationCorresponds to variant dbSNP:rs121909548EnsemblClinVar.1
Natural variantiVAR_007071416A → S in AT3D; type-II; Cambridge-2. 2 PublicationsCorresponds to variant dbSNP:rs121909548EnsemblClinVar.1
Natural variantiVAR_007072419A → V in AT3D; type-I. 1 PublicationCorresponds to variant dbSNP:rs121909568EnsemblClinVar.1
Natural variantiVAR_007073424G → D in AT3D; type-II; Stockholm. 2 PublicationsCorresponds to variant dbSNP:rs121909566EnsemblClinVar.1
Natural variantiVAR_007075425R → C in AT3D; type-II. 5 PublicationsCorresponds to variant dbSNP:rs121909554EnsemblClinVar.1
Natural variantiVAR_007074425R → H in AT3D; type-II; Glasgow/Sheffield/Chicago/Avranches/Kumamoto-2; increases affinity for heparin; deprived of inhibitory activity. 5 PublicationsCorresponds to variant dbSNP:rs121909549EnsemblClinVar.1
Natural variantiVAR_007076425R → P in AT3D; type-II; Pescara; deprived of inhibitory of activity. 1 PublicationCorresponds to variant dbSNP:rs121909549EnsemblClinVar.1
Natural variantiVAR_007077426S → L in AT3D; type-II; Denver/Milano-2; deprived of inhibitory activity. 3 PublicationsCorresponds to variant dbSNP:rs121909550EnsemblClinVar.1
Natural variantiVAR_007078434F → C in AT3D; type-II; Rosny. 1 Publication