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Results for the Protein: P01008
113936
462

ANT3_HUMAN RecName: Full=Antithrombin-III; Short=ATIII; AltName: Full=Serpin C1; Flags: Precursor

Known Diseases associated with this Protein:
  ANTITHROMBIN III DEFICIENCY (AT3D)
  THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
105
6
29
1
81
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SERPIN - smart00093


Swiss-Prot Protein: P01008
Identical to: NP_000479
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SERPINsmart000932.2e-17592461

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007090Diseasep.ALA459ASPAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007070Diseasep.ALA416PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007071Diseasep.ALA416SERAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007069Diseasep.ALA414THRAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007081Diseasep.ALA436THRAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007072Diseasep.ALA419VALAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007075Diseasep.ARG425CYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007035Diseasep.ARG56CYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007037Diseasep.ARG79CYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007041Diseasep.ARG89CYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007054Diseasep.ARG161GLNAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007068Polymorphismp.ARG391GLNN/A
Swiss-ProtVAR_009258Diseasep.ARG438GLYAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007074Diseasep.ARG425HISAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007038Diseasep.ARG79HISAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007083Diseasep.ARG438METAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007076Diseasep.ARG425PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007039Diseasep.ARG79SERAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007088Diseasep.ARG457THRAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007059Diseasep.ASN219ASPAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007058Diseasep.ASN219LYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007082Diseasep.ASN437LYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_012750Polymorphismp.ASN167THRN/A
Swiss-ProtVAR_027471Diseasep.ASP398HISAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027455Diseasep.CYS127ARGAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027451Diseasep.CYS32ARGAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007092Diseasep.CYS462PHEAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027457Diseasep.CYS160TYRAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007047Diseasep.GLN133LYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007050Diseasep.GLN150PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007060Diseasep.GLU269LYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007065Diseasep.GLU334LYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007087Diseasep.GLY456ARGAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007073Diseasep.GLY424ASPAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007051Diseasep.HIS152TYRAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007064Diseasep.ILE316ASNAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007033Diseasep.ILE39ASNAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027465Diseasep.ILE251THRAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007086Diseasep.ILE453THRAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027458Diseasep.LEU178HISAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007045Diseasep.LEU131PHEAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007053Diseasep.LEU158PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_012748Diseasep.LEU23PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007063Diseasep.LEU302PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027473Diseasep.LEU441PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027453Diseasep.LEU98PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007046Diseasep.LEU131VALAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027456Diseasep.LYS146GLUAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007062Diseasep.MET283ILEAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027454Diseasep.MET121LYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007034Polymorphismp.MET52THRN/A
Swiss-ProtVAR_027468Diseasep.MET283VALAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007078Diseasep.PHE434CYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027459Diseasep.PHE179LEUAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027467Diseasep.PHE261LEUAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007080Diseasep.PHE434LEUAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007042Diseasep.PHE90LEUAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007079Diseasep.PHE434SERAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007084Diseasep.PRO439LEUAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007091Diseasep.PRO461LEUAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007036Diseasep.PRO73LEUAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007044Diseasep.PRO112THRAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007085Diseasep.PRO439THRAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027472Diseasep.SER412ARGAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007077Diseasep.SER426LEUAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027461Diseasep.SER214PHEAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007049Diseasep.SER148PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027463Diseasep.SER223PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027469Diseasep.SER323PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007067Diseasep.SER381PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027470Diseasep.SER397PROAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007057Diseasep.SER214TYRAntithrombin III deficiency (AT3D)
dbSNPrs2227606 Polymorphismp.THR147ALAN/A
Swiss-ProtVAR_027464Diseasep.THR243ILEAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027466Diseasep.TRP257ARGAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007055Polymorphismp.TYR190CYSN/A
Swiss-ProtVAR_007056Diseasep.TYR198CYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027452Diseasep.TYR95CYSAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027460Diseasep.TYR198HISAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_027450Diseasep.TYR17SERAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_012316Diseasep.TYR95SERAntithrombin III deficiency (AT3D)
Swiss-ProtVAR_007032Polymorphismp.VAL30GLUN/A
OMIM107300.0007 Diseasep.ALA384PROTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0027 Diseasep.ALA384SERTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0022 Diseasep.ALA382THRTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0001 Diseasep.ALA404THRTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0042 Diseasep.ALA387VALTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0026 Diseasep.ARG24CYSTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0018 107300.0020 Diseasep.ARG393CYSTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0003 Diseasep.ARG47CYSTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0034 Diseasep.ARG129GLNTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0021 Diseasep.ARG393HISTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0015 Diseasep.ARG47HISTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0010 Diseasep.ARG393PROTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0016 Diseasep.ARG47SERTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0033 Diseasep.ARG129TERTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0046 Diseasep.ASN187ASPTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0045 Diseasep.ASN135THRTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0032 Diseasep.ASP309LYSTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0048 Diseasep.CYS95ARGTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0037 Diseasep.GLY392ASPTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0023 Diseasep.ILE7ASNTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0038 Diseasep.LEU99PHETHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0019 Diseasep.PRO407LEUTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0012 Diseasep.PRO41LEUTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0035 Diseasep.PRO429LEUTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0011 Diseasep.SER394LEUTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0043 Diseasep.SER116PROTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0047 Diseasep.SER191PROTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0031 Diseasep.SER291PROTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM107300.0036 Diseasep.SER349PROTHROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY



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