Results for the protein: P00734

Results for the Protein: P00734

135807

2147

F2

NCBI, UniProt

THRB_HUMAN RecName: Full=Prothrombin; AltName: Full=Coagulation factor II; Contains: RecName: Full=Activation peptide fragment 1; Contains: RecName: Full=Activation peptide fragment 2; Contains: RecName: Full=Thrombin light chain; Contains: RecName: Full=Thrombin heavy chain; Flags: Precursor

Known Diseases associated with this Protein:
  DYSPROTHROMBINEMIA
  DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II
  FACTOR II DEFICIENCY (FA2D)
  HYPOPROTHROMBINEMIA
  PROTHROMBIN TYPE 3
  THROMBOPHILIA DUE TO THROMBIN DEFECT

23

3

13

1

12

Tips:

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Default View: GLA - smart00069 KR - smart00130 Thrombin_light - pfam09396 Tryp_SPc - smart00020	Swiss-Prot Protein: P00734 Identical to: NP_000497 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
KR	smart00130	2.6e-39	106	188
KR	smart00130	4.7e-35	211	293
Thrombin_light	pfam09396	1.1e-30	315	363
Tryp_SPc	smart00020	8.6e-93	363	613

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006712	Disease	p.ARG314CYS	Factor II deficiency (FA2D)
Swiss-Prot	VAR_006715	Disease	p.ARG425CYS	Factor II deficiency (FA2D)
Swiss-Prot	VAR_006713	Disease	p.ARG314HIS	Factor II deficiency (FA2D)
Swiss-Prot	VAR_006716	Disease	p.ARG431HIS	Factor II deficiency (FA2D)
Swiss-Prot	VAR_006717	Disease	p.ARG461TRP	Factor II deficiency (FA2D)
Swiss-Prot	VAR_006718	Disease	p.GLU509ALA	Factor II deficiency (FA2D)
Swiss-Prot	VAR_068913	Polymorphism	p.GLU532GLN	N/A
Swiss-Prot	VAR_055232	Disease	p.GLU72GLY	Factor II deficiency (FA2D)
Swiss-Prot	VAR_006711	Disease	p.GLU200LYS	Factor II deficiency (FA2D)
Swiss-Prot	VAR_006719	Disease	p.GLY601VAL	Factor II deficiency (FA2D)
Swiss-Prot	VAR_006714	Disease	p.MET380THR	Factor II deficiency (FA2D)
Swiss-Prot	VAR_011782	Polymorphism	p.PRO386THR	N/A
dbSNP	rs5896	Polymorphism	p.THR165MET	N/A
OMIM	176930.0002	Disease	p.ARG271CYS	DYSPROTHROMBINEMIA
OMIM	176930.0004	Disease	p.ARG382CYS	DYSPROTHROMBINEMIA
OMIM	176930.0012	Disease	p.ARG382HIS	DYSPROTHROMBINEMIA
OMIM	176930.0007	Disease	p.ARG388HIS	DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II
OMIM	176930.0015	Disease	p.ARG596LEU	THROMBOPHILIA DUE TO THROMBIN DEFECT
OMIM	176930.0003	Disease	p.ARG418TRP	DYSPROTHROMBINEMIA
OMIM	176930.0013	Disease	p.ASP552GLU	DYSPROTHROMBINEMIA
OMIM	176930.0001	Disease	p.GLU157LYS	PROTHROMBIN TYPE 3
OMIM	176930.0010	Disease	p.GLU300LYS	DYSPROTHROMBINEMIA
OMIM	176930.0011	Disease	p.GLU309LYS	DYSPROTHROMBINEMIA
OMIM	176930.0005	Disease	p.GLY558VAL	DYSPROTHROMBINEMIA
OMIM	176930.0006	Disease	p.MET337THR	DYSPROTHROMBINEMIA
OMIM	176930.0014	Disease	p.TYR44CYS	HYPOPROTHROMBINEMIA

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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