Results for the protein: P00747

Results for the Protein: P00747

130316

5340

PLG

NCBI, UniProt

PLMN_HUMAN RecName: Full=Plasminogen; Contains: RecName: Full=Plasmin heavy chain A; Contains: RecName: Full=Activation peptide; Contains: RecName: Full=Angiostatin; Contains: RecName: Full=Plasmin heavy chain A, short form; Contains: RecName: Full=Plasmin light chain B; Flags: Precursor

Known Diseases associated with this Protein:
  DYSPLASMINOGENEMIA
  PLASMINOGEN DEFICIENCY (PLGD)
  PLASMINOGEN DEFICIENCY, TYPE I

16

13

8

4

17

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Default View: PAN_AP - smart00473 KR - smart00130 Tryp_SPc - smart00020	Swiss-Prot Protein: P00747 Identical to: NP_000292 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
KR	smart00130	4.3e-47	101	183
KR	smart00130	2.2e-46	184	264
KR	smart00130	6.9e-48	273	354
KR	smart00130	3.5e-51	375	456
KR	smart00130	3.5e-45	479	562
Tryp_SPc	smart00020	2.1e-100	580	803

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006629	Disease	p.ALA620THR	Plasminogen deficiency (PLGD)
Swiss-Prot	VAR_016292	Polymorphism	p.ALA494VAL	N/A
Swiss-Prot	VAR_018659	Disease	p.ARG235HIS	Plasminogen deficiency (PLGD)
Swiss-Prot	VAR_016289	Polymorphism	p.ARG261HIS	N/A
Swiss-Prot	VAR_018660	Disease	p.ARG532HIS	Plasminogen deficiency (PLGD)
Swiss-Prot	VAR_033653	Polymorphism	p.ARG134LYS	N/A
dbSNP	rs4252119	Polymorphism	p.ARG408TRP	N/A
Swiss-Prot	VAR_016293	Polymorphism	p.ARG523TRP	N/A
dbSNP	rs4252125	Polymorphism	p.ASP472ASN	N/A
Swiss-Prot	VAR_016287	Polymorphism	p.GLU57LYS	N/A
Swiss-Prot	VAR_006630	Disease	p.GLY751ARG	Plasminogen deficiency (PLGD)
dbSNP	rs61731706	Polymorphism	p.HIS133ARG	N/A
Swiss-Prot	VAR_016288	Polymorphism	p.HIS133GLN	N/A
Swiss-Prot	VAR_011779	Polymorphism	p.ILE46ARG	N/A
Swiss-Prot	VAR_018658	Disease	p.LEU147PRO	Plasminogen deficiency (PLGD)
Swiss-Prot	VAR_018657	Disease	p.LYS38GLU	Plasminogen deficiency (PLGD)
Swiss-Prot	VAR_011780	Polymorphism	p.LYS453ILE	N/A
dbSNP	rs116573785	Polymorphism	p.SER460ARG	N/A
Swiss-Prot	VAR_006628	Disease	p.SER591PRO	Plasminogen deficiency (PLGD)
Swiss-Prot	VAR_031213	Polymorphism	p.VAL676ASP	N/A
Swiss-Prot	VAR_006627	Disease	p.VAL374PHE	Plasminogen deficiency (PLGD)
OMIM	173350.0001	Disease	p.ALA601THR	DYSPLASMINOGENEMIA
OMIM	173350.0004	Disease	p.ARG216HIS	PLASMINOGEN DEFICIENCY, TYPE I
OMIM	173350.0006	Disease	p.GLU460TER	PLASMINOGEN DEFICIENCY, TYPE I
OMIM	173350.0007	Disease	p.GLY732ARG	DYSPLASMINOGENEMIA
OMIM	173350.0010	Disease	p.LYS19GLU	PLASMINOGEN DEFICIENCY, TYPE I
OMIM	173350.0003	Disease	p.SER572PRO	DYSPLASMINOGENEMIA
OMIM	173350.0005	Disease	p.TRP597TER	PLASMINOGEN DEFICIENCY, TYPE I
OMIM	173350.0002	Disease	p.VAL355PHE	DYSPLASMINOGENEMIA

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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