Results for the protein: P12259

Results for the Protein: P12259

308153653

2153

F5

NCBI, UniProt

FA5_HUMAN RecName: Full=Coagulation factor V; AltName: Full=Activated protein C cofactor; AltName: Full=Proaccelerin, labile factor; Contains: RecName: Full=Coagulation factor V heavy chain; Contains: RecName: Full=Coagulation factor V light chain; Flags: Precursor

Known Diseases associated with this Protein:
  BUDD-CHIARI SYNDROME, SUSCEPTIBIL
  FACTOR V DEFICIENCY
  FACTOR V DEFICIENCY (FA5D)
  FACTOR V HONG KONG
  STROKE, ISCHEMIC, SUSCEPTIBILITY TO, INCLUDED;;
  THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE
  THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (THPH2)
  THROMBOPHILIA DUE TO FACTOR V LEIDEN

15

29

9

14

21

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Default View: Cu-oxidase_3 - pfam07732 FA58C - smart00231 FA58C - cd00057 F5_F8_type_C - pfam00754	Swiss-Prot Protein: P12259 Identical to: NP_000121 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FA58C	cd00057	2.7e-74	2068	2220
F5_F8_type_C	pfam00754	3.2e-36	1922	2058
F5_F8_type_C	pfam00754	2.7e-43	2081	2218
Cu-oxidase_3	pfam07732	6.3e-06	63	197
FA58C	smart00231	2.1e-46	1906	2061
FA58C	smart00231	3.9e-39	2065	2221

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_032701	Disease	p.ARG2102CYS	Factor V deficiency (FA5D)
Swiss-Prot	VAR_001213	Polymorphism	p.ARG534GLN	N/A
Swiss-Prot	VAR_013620	Polymorphism	p.ARG334GLY	N/A
Swiss-Prot	VAR_017329	Disease	p.ARG2102HIS	Thrombophilia due to activated protein C resistance (THPH2)
Swiss-Prot	VAR_021300	Polymorphism	p.ARG980LEU	N/A
dbSNP	rs6020	Polymorphism	p.ARG513LYS	N/A
Swiss-Prot	VAR_013621	Disease	p.ARG334THR	Thrombophilia due to activated protein C resistance (THPH2)
Swiss-Prot	VAR_021299	Polymorphism	p.ASN969SER	N/A
dbSNP	rs6018	Polymorphism	p.ASN817THR	N/A
dbSNP	rs6027	Polymorphism	p.ASP2222GLY	N/A
dbSNP	rs6019	Polymorphism	p.ASP107HIS	N/A
Swiss-Prot	VAR_032699	Disease	p.CYS613ARG	Thrombophilia due to activated protein C resistance (THPH2)
Swiss-Prot	VAR_013894	Polymorphism	p.GLU1530ALA	N/A
dbSNP	rs9332485	Polymorphism	p.GLY15SER	N/A
dbSNP	rs1800595	Polymorphism	p.HIS1327ARG	N/A
dbSNP	rs4525	Polymorphism	p.HIS865ARG	N/A
dbSNP	rs6005	Polymorphism	p.HIS1146GLN	N/A
Swiss-Prot	VAR_032698	Disease	p.ILE387THR	Thrombophilia due to activated protein C resistance (THPH2)
Swiss-Prot	VAR_013892	Polymorphism	p.LEU1285ILE	N/A
Swiss-Prot	VAR_047741	Polymorphism	p.LEU1397PHE	N/A
Swiss-Prot	VAR_013896	Polymorphism	p.LEU1749VAL	N/A
Swiss-Prot	VAR_034603	Polymorphism	p.LYS2185ARG	N/A
dbSNP	rs4524	Polymorphism	p.LYS858ARG	N/A
dbSNP	rs6032	Polymorphism	p.LYS925GLU	N/A
Swiss-Prot	VAR_013898	Polymorphism	p.MET1820ILE	N/A
Swiss-Prot	VAR_021302	Polymorphism	p.MET2148THR	N/A
dbSNP	rs6033	Polymorphism	p.MET413THR	N/A
Swiss-Prot	VAR_013897	Polymorphism	p.MET1764VAL	N/A
dbSNP	rs9332608	Polymorphism	p.PRO1404SER	N/A
dbSNP	rs6031	Polymorphism	p.PRO809SER	N/A
Swiss-Prot	VAR_035817	Polymorphism	p.SER775ALA	N/A
Swiss-Prot	VAR_047740	Polymorphism	p.SER781ARG	N/A
Swiss-Prot	VAR_013895	Polymorphism	p.THR1685SER	N/A
dbSNP	rs9332695	Polymorphism	p.THR915SER	N/A
Swiss-Prot	VAR_032700	Disease	p.TYR1730CYS	Factor V deficiency (FA5D)
OMIM	612309.0012	Disease	p.ARG2074CYS	FACTOR V DEFICIENCY
OMIM	612309.0001	Disease	p.ARG506GLN	THROMBOPHILIA DUE TO FACTOR V LEIDEN\|\|STROKE, ISCHEMIC, SUSCEPTIBILITY TO, INCLUDED;;\|\|BUDD-CHIARI SYNDROME, SUSCEPTIBIL
OMIM	612309.0002	Disease	p.ARG306GLY	FACTOR V HONG KONG
OMIM	612309.0009	Disease	p.ARG1133TER	FACTOR V DEFICIENCY
OMIM	612309.0003	Disease	p.ARG306THR	THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE
OMIM	612309.0008	Disease	p.GLN773TER	FACTOR V DEFICIENCY
OMIM	612309.0014	Disease	p.GLU119TER	THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE
OMIM	612309.0013	Disease	p.ILE359THR	THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE
OMIM	612309.0007	Disease	p.TYR1702CYS	FACTOR V 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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