Results for the protein: P27918

Results for the Protein: P27918

464473

5199

CFP

NCBI, UniProt

PROP_HUMAN RecName: Full=Properdin; AltName: Full=Complement factor P; Flags: Precursor

Known Diseases associated with this Protein:
  PROPERDIN DEFICIENCY (PFD)
  PROPERDIN DEFICIENCY, TYPE I
  PROPERDIN DEFICIENCY, TYPE II
  PROPERDIN DEFICIENCY, TYPE III

9

4

5

3

5

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Default View: TSP1 - smart00209	Swiss-Prot Protein: P27918 Identical to: NP_001138724, NP_002612 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TSP1	smart00209	3.7e-18	139	191
TSP1	smart00209	7.4e-17	196	255
TSP1	smart00209	1.9e-14	260	313

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_002002	Disease	p.ARG100TRP	Properdin deficiency (PFD)
Swiss-Prot	VAR_002003	Disease	p.GLN343ARG	Properdin deficiency (PFD)
dbSNP	rs8177077	Polymorphism	p.GLY250SER	N/A
Swiss-Prot	VAR_013139	Disease	p.GLY298VAL	Properdin deficiency (PFD)
dbSNP	rs8177076	Polymorphism	p.PRO204LEU	N/A
Swiss-Prot	VAR_035813	Polymorphism	p.THR3ILE	N/A
Swiss-Prot	VAR_002004	Disease	p.TYR414ASP	Properdin deficiency (PFD)
dbSNP	rs8177068	Polymorphism	p.VAL53MET	N/A
OMIM	300383.0001	Disease	p.ARG134TER	PROPERDIN DEFICIENCY, TYPE I
OMIM	300383.0002	Disease	p.ARG73TRP	PROPERDIN DEFICIENCY, TYPE II
OMIM	300383.0003	Disease	p.GLY271VAL	PROPERDIN DEFICIENCY, TYPE I
OMIM	300383.0004	Disease	p.SER179TER	PROPERDIN DEFICIENCY, TYPE I
OMIM	300383.0005	Disease	p.TYR387ASP	PROPERDIN DEFICIENCY, TYPE III

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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