Results for the protein: P08697

Results for the Protein: P08697

112907

5345

SERPINF2

NCBI, UniProt

A2AP_HUMAN RecName: Full=Alpha-2-antiplasmin; Short=Alpha-2-AP; AltName: Full=Alpha-2-plasmin inhibitor; Short=Alpha-2-PI; AltName: Full=Serpin F2; Flags: Precursor

Known Diseases associated with this Protein:
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY (APLID)

2

6

1

3

4

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Default View: SERPIN - smart00093	Swiss-Prot Protein: P08697 Identical to: NP_000925, NP_001159392 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_051956	Polymorphism	p.ALA98GLY	N/A
dbSNP	rs2070862	Polymorphism	p.ALA2VAL	N/A
Swiss-Prot	VAR_013252	Polymorphism	p.ALA27VAL	N/A
dbSNP	rs1057335	Polymorphism	p.ARG434LYS	N/A
dbSNP	rs2070863	Polymorphism	p.ARG33TRP	N/A
Swiss-Prot	VAR_061792	Polymorphism	p.PRO451SER	N/A
Swiss-Prot	VAR_013255	Disease	p.VAL411MET	Alpha-2-plasmin inhibitor deficiency (APLID)
OMIM	613168.0003	Disease	p.VAL384MET	ALPHA-2-PLASMIN INHIBITOR 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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