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Index > Protein center > SERPINC1(Gene name) > Human
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  • SERPINC1 (Gene name),
  • Antithrombin-III (Protein name ),  ANT3_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    SERPINC1(PRO0309;AT3);
    Protein name:
    Antithrombin-III(ATIII);
    Alternative:
    Serpin C1;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    Function:
    Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin.
    Subcellular Location:
    Secreted extracellular space
    Protein Attributes:
    Sequence length:
    464
    Sequence:
    50:
    MYSNVIGTVT | SGKRKVYLLS | LLLIGFWDCV | TCHGSPVDIC | TAKPRDIPMN | 
    100:
    PMCIYRSPEK | KATEDEGSEQ | KIPEATNRRV | WELSKANSRF | ATTFYQHLAD | 
    150:
    SKNDNDNIFL | SPLSISTAFA | MTKLGACNDT | LQQLMEVFKF | DTISEKTSDQ | 
    200:
    IHFFFAKLNC | RLYRKANKSS | KLVSANRLFG | DKSLTFNETY | QDISELVYGA | 
    250:
    KLQPLDFKEN | AEQSRAAINK | WVSNKTEGRI | TDVIPSEAIN | ELTVLVLVNT | 
    300:
    IYFKGLWKSK | FSPENTRKEL | FYKADGESCS | ASMMYQEGKF | RYRRVAEGTQ | 
    350:
    VLELPFKGDD | ITMVLILPKP | EKSLAKVEKE | LTPEVLQEWL | DELEEMMLVV | 
    400:
    HMPRFRIEDG | FSLKEQLQDM | GLVDLFSPEK | SKLPGIVAEG | RDDLYVSDAF | 
    450:
    HKAFLEVNEE | GSEAAASTAV | VIAGRSLNPN | RVTFKANRPF | LVFIREVPLN | 
    464:
    TIIFMGRVAN | PCVK
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    MIM:
    String:
    UniGene:
    Pfam:
    SMR:
    KEGG:
    Uniprot:
     
    FOR
    ELISA Kit for Human ATIII
    Cat.:
    E0878b
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human ATIII
    Cat.:
    E0878c
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human ATIII
    Cat.:
    E0878h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human ATIII
    Cat.:
    E0878m
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human ATIII
    Cat.:
    U0878h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human ATIII
    MSDS:
    Please sign in first.
    CLIA Kit for Human ATIII
    Cat.:
    U0878b
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human ATIII
    Cat.:
    U0878m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human ATIII
    Polyclonal Antibody for Human ATIII
    Cat.:
    P0878Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human ATIII
    Cat.:
    P0878Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human ATIII
    Monoclonal Antibody for Human ATIII
    Monoclonal Antibody for Human ATIII
    Monoclonal Antibody for Human ATIII
    Monoclonal Antibody for Human ATIII
    Protein for Human ATIII
    Protein for Human ATIII
    Protein for Human ATIII
    Protein for Human ATIII

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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "Cloning and expression of the cDNA for human antithrombin III."
      Bock S.C. , Wion K.L. , Vehar G.A. , Lawn R.M.
      Nucleic Acids Res.10:8113-8125(1982) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    2. 2.
      "Isolation and sequence characterization of a cDNA clone of human antithrombin III."
      Chandra T. , Stackhouse R. , Kidd V.J. , Woo S.L.C.
      Proc. Natl. Acad. Sci. U.S.A.80:1845-1848(1983) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
    3. 3.
      "Hereditary antithrombin III deficiency: identification of an arginine-406 to methionine point mutation near protease reactive site."
      Tsuji H. , Takada O. , Nakagawa M. , Tanaka S. , Hashimoto-Gotoh T.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT AT3D MET-438
    4. 4.
      "Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia."
      Olds R.J. , Lane D.A. , Chowdhury V. , de Stefano V. , Leone G. , Thein S.L.
      Biochemistry32:4216-4224(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    5. 5.
      "Functional prediction of the coding sequences of 75 new genes deduced by analysis of cDNA clones from human fetal liver."
      Zhang C. , Yu Y. , Zhang S. , Wei H. , Bi J. , Zhou G. , Dong C. , Zai Y. , Xu W. , Gao F. , Liu M. , He F.
      Submitted (1999-02) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Fetal liver.
    6. 6.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Liver.
    7. 7.
      SeattleSNPs variation discovery resource
      Submitted (2001-06) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS GLU-30 AND ALA-147
    8. 8.
      "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G. , Barlow K.F. , McLay K.E. , Kaul R. , Swarbreck D. , Dunham A. , Scott C.E. , Howe K.L. , Woodfine K. , Spencer C.C.A. , Jones M.C. , Gillson C. , Searle S. , Zhou Y. , Kokocinski F. , McDonald L. , Evans R. , Phillips K. , more...
      Nature441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    9. 9.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    10. 10.
      "Primary structure of antithrombin-III (heparin cofactor). Partial homology between alpha-1-antitrypsin and antithrombin-III."
      Petersen T.E. , Dudek-Wojciechowska G. , Sottrup-Jensen L. , Magnusson S.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 33-464;GLYCOSYLATION AT ASN-128; ASN-167; ASN-187 AND ASN-224;DISULFIDE BONDS
    11. 11.
      "Isolation of a cDNA clone for human antithrombin III."
      Prochownik E.V. , Markham A.F. , Orkin S.H.
      J. Biol. Chem.258:8389-8394(1983) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 42-464
    12. 12.
      "Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site."
      Bock S.C. , Marrinan J.A. , Radziejewska E.
      Biochemistry27:6171-6178(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 137-208;VARIANT AT3D LEU-439
    13. 13.
      "Antithrombin-TRI (Ala382 to Thr) causing severe thromboembolic tendency undergoes the S-to-R transition and is associated with a plasma-inactive high-molecular-weight complex of aggregated antithrombin."
      Lindo V.S. , Kakkar V.V. , Learmonth M. , Melissari E. , Zappacosta F. , Panico M. , Morris H.R.
      Br. J. Haematol.89:589-601(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 371-425;MASS SPECTROMETRY;VARIANT AT3D THR-414
      tissue: Plasma.
    14. 14.
      "The site in human antithrombin for functional proteolytic cleavage by human thrombin."
      Bjoerk I. , Danielsson A. , Fenton J.W. II , Joernvall H.
      FEBS Lett.126:257-260(1981) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REACTIVE SITE
    15. 15.
      "The heparin-binding site of antithrombin III. Identification of a critical tryptophan in the amino acid sequence."
      Blackburn M.N. , Smith R.L. , Carson J. , Sibley C.C.
      J. Biol. Chem.259:939-941(1984) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: HEPARIN-BINDING SITE
    16. 16.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-187
      tissue: Bile.
    17. 17.
      "Screening for N-glycosylated proteins by liquid chromatography mass spectrometry."
      Bunkenborg J. , Pilch B.J. , Podtelejnikov A.V. , Wisniewski J.R.
      Proteomics4:454-465(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-128 AND ASN-187
      tissue: Plasma.
    18. 18.
      "Matriptase-3 is a novel phylogenetically preserved membrane-anchored serine protease with broad serpin reactivity."
      Szabo R. , Netzel-Arnett S. , Hobson J.P. , Antalis T.M. , Bugge T.H.
      Biochem. J.390:231-242(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION IN MEMBRANE-ANCHORED SERINE PROTEASE TMPRSS7 INHIBITION;HETERODIMER WITH TMPRSS7
    19. 19.
      "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T. , Qian W.-J. , Gritsenko M.A. , Camp D.G. II , Monroe M.E. , Moore R.J. , Smith R.D.
      J. Proteome Res.4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-128; ASN-187 AND ASN-224
      tissue: Plasma.
    20. 20.
      "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach."
      Lewandrowski U. , Moebius J. , Walter U. , Sickmann A.
      Mol. Cell. Proteomics5:226-233(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-224
      tissue: Platelet.
    21. 21.
      "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
      J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-128 AND ASN-187
      tissue: Liver.
    22. 22.
      "Enrichment of glycopeptides for glycan structure and attachment site identification."
      Nilsson J. , Rueetschi U. , Halim A. , Hesse C. , Carlsohn E. , Brinkmalm G. , Larson G.
      Nat. Methods6:809-811(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-187;STRUCTURE OF CARBOHYDRATES
      tissue: Cerebrospinal fluid.
    23. 23.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    24. 24.
      "Biological implications of a 3 A structure of dimeric antithrombin."
      Carrell R.W. , Stein P.E. , Fermi G. , Wardell M.R.
      Structure2:257-270(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS)
    25. 25.
      "The intact and cleaved human antithrombin III complex as a model for serpin-proteinase interactions."
      Schreuder H.A. , de Boer B. , Dijkema R. , Mulders J. , Theunissen H.J.M. , Grootenhuis P.D.J. , Hol W.G.J.
      Nat. Struct. Biol.1:48-54(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (3.2 ANGSTROMS)
    26. 26.
      "The 2.6 A structure of antithrombin indicates a conformational change at the heparin binding site."
      Skinner R. , Abrahams J.P. , Whisstock J.C. , Lesk A.M. , Carrel R.W. , Wardell M.R.
      J. Mol. Biol.266:601-609(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS)
    27. 27.
      "Implications for function and therapy of a 2.9 A structure of binary-complexed antithrombin."
      Skinner R. , Chang W.-S.W. , Jin L. , Pei X.Y. , Huntington J.A. , Abrahams J.P. , Carrell R.W. , Lomas D.A.
      J. Mol. Biol.283:9-14(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS)
    28. 28.
      "Antithrombin III: structural and functional aspects."
      Mourey L. , Samama J.-P. , Delarue M. , Choay J. , Lormeau J.C. , Petitou M. , Moras D.
      Biochimie72:599-608(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW
    29. 29.
      "Antithrombin III mutation database: first update. For the Thrombin and its Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis."
      Lane D.A. , Olds R.J. , Boisclair M. , Chowdhury V. , Thein S.L. , Cooper D.N. , Blajchman M. , Perry D. , Emmerich J. , Aiach M.
      Thromb. Haemost.70:361-369(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    30. 30.
      "What do dysfunctional serpins tell us about molecular mobility and disease?"
      Stein P.E. , Carrell R.W.
      Nat. Struct. Biol.2:96-113(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    31. 31.
      "Molecular genetics of human antithrombin deficiency."
      Perry D.J. , Carrell R.W.
      Hum. Mutat.7:7-22(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    32. 32.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AT3D SER-17; PRO-23; ASN-39; CYS-56; LEU-73; CYS-79; HIS-79; SER-79; ASN-87 DEL; CYS-89; LEU-90; CYS-95; SER-95; PRO-98; THR-112; PHE-131; VAL-131; LYS-133; PHE-138-139-LYS DEL; PRO-148; PRO-150; PRO-158; TYR-160; GLN-161; CYS-198; HIS-198; ILE-218 DEL; ASP-219; LYS-219; ARG-257; LYS-269; ILE-283; ASN-316; LYS-334; ARG-412; THR-414; PRO-416; SER-416; VAL-419; ASP-424; CYS-425; HIS-425; PRO-425; LEU-426; CYS-434; LEU-434; SER-434; THR-436; LYS-437; GLY-438; MET-438; LEU-439; THR-439; THR-453; ARG-456; THR-457; ASP-459; LEU-461 AND PHE-462;VARIANTS GLU-30; THR-52 AND CYS-190
    33. 33.
      "Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability."
      Koide T. , Odani S. , Takahashi K. , Ono T. , Sakuragawa N.
      Proc. Natl. Acad. Sci. U.S.A.81:289-293(1984) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D CYS-79
    34. 34.
      "Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity."
      Chang J.Y. , Tran T.H.
      J. Biol. Chem.261:1174-1176(1986) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D LEU-73
    35. 35.
      "Antithrombin-III Denver, a reactive site variant."
      Stephens A.W. , Thalley B.S. , Hirs C.H.W.
      J. Biol. Chem.262:1044-1048(1987) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D LEU-426
    36. 36.
      "Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity."
      Devrak-Kizuk R. , Chui D.H.K. , Prochownik E.V. , Carter C.J. , Ofosu F.A. , Blajchman M.A.
      Blood72:1518-1523(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D THR-414
    37. 37.
      "Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow."
      Erdjument H. , Laned D.A. , Panico M. , di Marzo V. , Morris H.R.
      J. Biol. Chem.263:5589-5593(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AT3D CYS-425 AND HIS-425
    38. 38.
      "Antithrombin Chicago, amino acid substitution of arginine 393 to histidine."
      Erdjument H. , Lane D.A. , Panico M. , di Marzo V. , Morris H.R. , Bauer K. , Rosenberg R.D.
      Thromb. Res.54:613-619(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D HIS-425
    39. 39.
      "Antithrombin Rouen-IV 24 Arg-->Cys. The amino-terminal contribution to heparin binding."
      Borg J.Y. , Brennan S.O. , Carrell R.W. , George P. , Perry D.J. , Shaw J.
      FEBS Lett.266:163-166(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D CYS-56
    40. 40.
      "Antithrombin Dublin (-3 Val-->Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site."
      Daly M. , Bruce D. , Perry D.J. , Price J. , Harper P.L. , O'Meara A. , Carrell R.W.
      FEBS Lett.273:87-90(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLU-30
    41. 41.
      "Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine."
      Gandrille S. , Aiach M. , Lane D.A. , Vidaud D. , Molho-Sabatier P. , Caso R. , de Moerloose P. , Fiessinger J.-N. , Clauser E.
      J. Biol. Chem.265:18997-19001(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D GLN-161
    42. 42.
      "Site-directed mutagenesis of alanine-382 of human antithrombin III."
      Austin R.C. , Rachubinski R.A. , Blachjman M.A.
      FEBS Lett.280:254-258(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANT AT3D THR-414;MUTAGENESIS OF ALA-414
    43. 43.
      "Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins."
      Perry D.J. , Daly M. , Harper P.L. , Tait R.C. , Price J. , Walker I.D. , Carrell R.W.
      FEBS Lett.285:248-250(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D SER-416
    44. 44.
      "Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F."
      Olds R.J. , Lane D.A. , Boisclair M. , Sas G. , Bock S.C. , Thein S.L.
      FEBS Lett.300:241-246(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D PHE-131
    45. 45.
      "Antithrombin-III Stockholm: a codon 392 (Gly-->Asp) mutation with normal heparin binding and impaired serine protease reactivity."
      Blajchman M.A. , Fernandez-Rachubinski F. , Sheffield W.P. , Austin R.C. , Schulman S.
      Blood79:1428-1434(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D ASP-424
    46. 46.
      "Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis."
      Okajima K. , Abe H. , Maeda S. , Motomura M. , Tsujihata M. , Nagataki S. , Okabe H. , Takatsuki K.
      Blood81:1300-1305(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D PRO-148
    47. 47.
      "A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection."
      Olds R.J. , Lane D.A. , Beresford C.H. , Abildgaard U. , Hughes P.M. , Thein S.L.
      Genomics16:298-299(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D 138-PHE-LYS-139 DEL
    48. 48.
      "Three novel mutations of antithrombin inducing high-molecular-mass compounds."
      Emmerich J. , Vidaud D. , Alhenc-Gelas M. , Chadeuf G. , Gouault-Heilmann M. , Aillaud M.-F. , Aiach M.
      Arterioscler. Thromb.14:1958-1965(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AT3D HIS-79 AND TYR-160
    49. 49.
      "Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis."
      Millar D.S. , Wacey A.I. , Ribando J. , Melissari E. , Laursen B. , Woods P. , Kakkar V.V. , Cooper D.N.
      Hum. Genet.94:509-512(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AT3D THR-112; TYR-152 AND ILE-283;VARIANT CYS-190
    50. 50.
      "Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis."
      Jochmans K. , Lissens W. , Vervoort R. , Peeters S. , de Waelwe M. , Liebaers I.
      Blood83:146-151(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D ARG-456
    51. 51.
      "Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families."
      van Boven H.H. , Olds R.J. , Thein S.L. , Reitsma P.H. , Lane D.A. , Briet E. , Vandenbroucke J.P. , Rosendaal F.R.
      Blood84:4209-4213(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AT3D SER-95; THR-453 AND PHE-462
    52. 52.
      "Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)."
      Bruce D. , Perry D.J. , Borg J.-Y. , Carrell R.W. , Wardell M.R.
      J. Clin. Invest.94:2265-2274(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D ASP-219
    53. 53.
      "Two novel antithrombin variants (L99V and Q118P) which alter the heparin binding domain."
      Chowdhury V. , Olds R.J. , Lane D.A. , Mille B. , Pabinger I. , Thein S.L.
      Nouv. Rev. Fr. Hematol.86:268-268(1994)
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AT3D VAL-131 AND PRO-150
    54. 54.
      "Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6."
      Emmerich J. , Chadeuf G. , Alhenc-Gelas M. , Gouault-Heilman M. , Toulon P. , Fiessinger J.-N. , Aiach M.
      Thromb. Haemost.72:534-539(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D 273-LYS--LYS-307 DEL
    55. 55.
      "Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin."
      Okajima K. , Abe H. , Wagatsuma M. , Okabe H. , Takatsuki K.
      Am. J. Hematol.48:12-18(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D HIS-425
    56. 56.
      "Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency."
      Ozawa T. , Takikawa Y. , Niiya K. , Fujiwara T. , Suzuki K. , Sato S. , Sakuragawa N.
      Thromb. Haemost.77:403-403(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D ARG-127
    57. 57.
      "Impaired cotranslational processing as a mechanism for type I antithrombin deficiency."
      Fitches A.C. , Appleby R. , Lane D.A. , De Stefano V. , Leone G. , Olds R.J.
      Blood92:4671-4676(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D PRO-23
    58. 58.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AT3D ARG-32; LEU-73; CYS-79; HIS-198; ARG-257 AND ARG-412
    59. 59.
      "Familial overexpression of beta-antithrombin caused by an Asn135-to-Thr substitution."
      Bayston T.A. , Tripodi A. , Mannucci P.M. , Thompson E. , Ireland H. , Fitches A.C. , Hananeia L. , Olds R.J. , Lane D.A.
      Blood93:4242-4247(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT THR-167
    60. 60.
      "Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene."
      Picard V. , Bura A. , Emmerich J. , Alhenc-Gelas M. , Biron C. , Houbouyan-Reveillard L.L. , Molho P. , Labatide-Alanore A. , Sie P. , Toulon P. , Verdy E. , Aiach M.
      Br. J. Haematol.110:731-734(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AT3D PHE-214; PRO-223; ILE-243; THR-251; VAL-283 AND PRO-397
    61. 61.
      "Two novel gene mutations in type I antithrombin deficiency."
      Niiya K. , Kiguchi T. , Dansako H. , Fujimura K. , Fujimoto T. , Iijima K. , Tanimoto M. , Harada M.
      Int. J. Hematol.74:469-472(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D 152-HIS--PHE-154 DEL
    62. 62.
      "Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate."
      Baud O. , Picard V. , Durand P. , Duchemin J. , Proulle V. , Alhenc-Gelas M. , Devictor D. , Dreyfus M.
      J. Pediatr.139:741-743(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D PRO-223
    63. 63.
      "Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity."
      Mushunje A. , Zhou A. , Huntington J.A. , Conard J. , Carrell R.W.
      Thromb. Haemost.88:436-443(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D GLU-146
    64. 64.
      "Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis."
      Picard V. , Dautzenberg M.-D. , Villoutreix B.O. , Orliaguet G. , Alhenc-Gelas M. , Aiach M.
      Blood102:919-925(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D LEU-261
    65. 65.
      "Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis."
      Nagaizumi K. , Inaba H. , Amano K. , Suzuki M. , Arai M. , Fukutake K.
      Int. J. Hematol.78:79-83(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AT3D LYS-121; HIS-178; CYS-425; HIS-425 AND PRO-441
    66. 66.
      "Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors."
      David D. , Ribeiro S. , Ferrao L. , Gago T. , Crespo F.
      Am. J. Hematol.76:163-171(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AT3D LEU-179; CYS-425 AND LEU-426
    67. 67.
      "Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation."
      Kuhli C. , Jochmans K. , Scharrer I. , Luechtenberg M. , Hattenbach L.-O.
      Arch. Ophthalmol.124:1165-1169(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AT3D HIS-398
    68. 68.
      "Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture."
      Puurunen M. , Salo P. , Engelbarth S. , Javela K. , Perola M.
      J. Thromb. Haemost.11:1844-1849(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AT3D PHE-53; LEU-73; ASP-125; PRO-170; ASN-218; GLY-248; PRO-293; ARG-401; CYS-425; GLY-438 AND ALA-439;VARIANT GLU-30
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