Results for the protein: P01008

Results for the Protein: P01008

113936

462

SERPINC1

NCBI, UniProt

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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Default View: SERPIN - smart00093	Swiss-Prot Protein: P01008 Identical to: NP_000479 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_007090	Disease	p.ALA459ASP	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007070	Disease	p.ALA416PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007071	Disease	p.ALA416SER	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007069	Disease	p.ALA414THR	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007081	Disease	p.ALA436THR	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007072	Disease	p.ALA419VAL	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007075	Disease	p.ARG425CYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007035	Disease	p.ARG56CYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007037	Disease	p.ARG79CYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007041	Disease	p.ARG89CYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007054	Disease	p.ARG161GLN	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007068	Polymorphism	p.ARG391GLN	N/A
Swiss-Prot	VAR_009258	Disease	p.ARG438GLY	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007074	Disease	p.ARG425HIS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007038	Disease	p.ARG79HIS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007083	Disease	p.ARG438MET	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007076	Disease	p.ARG425PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007039	Disease	p.ARG79SER	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007088	Disease	p.ARG457THR	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007059	Disease	p.ASN219ASP	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007058	Disease	p.ASN219LYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007082	Disease	p.ASN437LYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_012750	Polymorphism	p.ASN167THR	N/A
Swiss-Prot	VAR_027471	Disease	p.ASP398HIS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027455	Disease	p.CYS127ARG	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027451	Disease	p.CYS32ARG	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007092	Disease	p.CYS462PHE	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027457	Disease	p.CYS160TYR	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007047	Disease	p.GLN133LYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007050	Disease	p.GLN150PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007060	Disease	p.GLU269LYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007065	Disease	p.GLU334LYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007087	Disease	p.GLY456ARG	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007073	Disease	p.GLY424ASP	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007051	Disease	p.HIS152TYR	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007064	Disease	p.ILE316ASN	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007033	Disease	p.ILE39ASN	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027465	Disease	p.ILE251THR	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007086	Disease	p.ILE453THR	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027458	Disease	p.LEU178HIS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007045	Disease	p.LEU131PHE	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007053	Disease	p.LEU158PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_012748	Disease	p.LEU23PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007063	Disease	p.LEU302PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027473	Disease	p.LEU441PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027453	Disease	p.LEU98PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007046	Disease	p.LEU131VAL	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027456	Disease	p.LYS146GLU	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007062	Disease	p.MET283ILE	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027454	Disease	p.MET121LYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007034	Polymorphism	p.MET52THR	N/A
Swiss-Prot	VAR_027468	Disease	p.MET283VAL	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007078	Disease	p.PHE434CYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027459	Disease	p.PHE179LEU	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027467	Disease	p.PHE261LEU	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007080	Disease	p.PHE434LEU	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007042	Disease	p.PHE90LEU	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007079	Disease	p.PHE434SER	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007084	Disease	p.PRO439LEU	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007091	Disease	p.PRO461LEU	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007036	Disease	p.PRO73LEU	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007044	Disease	p.PRO112THR	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007085	Disease	p.PRO439THR	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027472	Disease	p.SER412ARG	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007077	Disease	p.SER426LEU	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027461	Disease	p.SER214PHE	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007049	Disease	p.SER148PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027463	Disease	p.SER223PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027469	Disease	p.SER323PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007067	Disease	p.SER381PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027470	Disease	p.SER397PRO	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007057	Disease	p.SER214TYR	Antithrombin III deficiency (AT3D)
dbSNP	rs2227606	Polymorphism	p.THR147ALA	N/A
Swiss-Prot	VAR_027464	Disease	p.THR243ILE	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027466	Disease	p.TRP257ARG	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007055	Polymorphism	p.TYR190CYS	N/A
Swiss-Prot	VAR_007056	Disease	p.TYR198CYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027452	Disease	p.TYR95CYS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027460	Disease	p.TYR198HIS	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_027450	Disease	p.TYR17SER	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_012316	Disease	p.TYR95SER	Antithrombin III deficiency (AT3D)
Swiss-Prot	VAR_007032	Polymorphism	p.VAL30GLU	N/A
OMIM	107300.0007	Disease	p.ALA384PRO	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0027	Disease	p.ALA384SER	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0022	Disease	p.ALA382THR	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0001	Disease	p.ALA404THR	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0042	Disease	p.ALA387VAL	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0026	Disease	p.ARG24CYS	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0018 107300.0020	Disease	p.ARG393CYS	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0003	Disease	p.ARG47CYS	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0034	Disease	p.ARG129GLN	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0021	Disease	p.ARG393HIS	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0015	Disease	p.ARG47HIS	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0010	Disease	p.ARG393PRO	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0016	Disease	p.ARG47SER	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0033	Disease	p.ARG129TER	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0046	Disease	p.ASN187ASP	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0045	Disease	p.ASN135THR	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0032	Disease	p.ASP309LYS	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0048	Disease	p.CYS95ARG	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0037	Disease	p.GLY392ASP	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0023	Disease	p.ILE7ASN	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0038	Disease	p.LEU99PHE	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0019	Disease	p.PRO407LEU	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0012	Disease	p.PRO41LEU	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0035	Disease	p.PRO429LEU	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0011	Disease	p.SER394LEU	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0043	Disease	p.SER116PRO	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0047	Disease	p.SER191PRO	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0031	Disease	p.SER291PRO	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
OMIM	107300.0036	Disease	p.SER349PRO	THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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