Results for the protein: P12318

Results for the Protein: P12318

160332371

2212

FCGR2A

NCBI, UniProt

FCG2A_HUMAN RecName: Full=Low affinity immunoglobulin gamma Fc region receptor II-a; Short=IgG Fc receptor II-a; AltName: Full=CDw32; AltName: Full=Fc-gamma RII-a; Short=Fc-gamma-RIIa; Short=FcRII-a; AltName: CD_antigen=CD32; Flags: Precursor

Known Diseases associated with this Protein:
  CYSTIC FIBROSIS,
  LUPUS NEPHRITIS, SUSCEPTIBILITY TO
  PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN

1

4

1

2

2

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Default View: Ig1_FcgammaR_like - cd05752 IG - smart00409 IG_like - smart00410 IGc2 - smart00408 Ig2_FcgammaR_like - cd05753	Swiss-Prot Protein: P12318 Identical to: NP_001129691 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ig2_FcgammaR_like	cd05753	3.7e-56	123	205
IG	smart00409	0.0002	47	120
IG_like	smart00410	0.0002	47	120
IGc2	smart00408	9.9e-05	54	111
IG	smart00409	6.5e-10	128	206
IG_like	smart00410	6.5e-10	128	206

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs9427398	Polymorphism	p.GLN63ARG	N/A
dbSNP	rs1801274	Polymorphism	p.HIS167ARG	N/A
Swiss-Prot	VAR_054859	Polymorphism	p.ILE218VAL	N/A
Swiss-Prot	VAR_054858	Polymorphism	p.MET140VAL	N/A
OMIM	146790.0001	Disease	p.ARG131HIS	LUPUS NEPHRITIS, SUSCEPTIBILITY TO\|\|PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN\|\|CYSTIC FIBROSIS,

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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