Results for the protein: Q13093

Results for the Protein: Q13093

2497687

7941

PLA2G7

NCBI, UniProt

PAFA_HUMAN RecName: Full=Platelet-activating factor acetylhydrolase; Short=PAF acetylhydrolase; AltName: Full=1-alkyl-2-acetylglycerophosphocholine esterase; AltName: Full=2-acetyl-1-alkylglycerophosphocholine esterase; AltName: Full=Group-VIIA phospholipase A2; Short=gVIIA-PLA2; AltName: Full=LDL-associated phospholipase A2; Short=LDL-PLA(2); AltName: Full=PAF 2-acylhydrolase; Flags: Precursor

Known Diseases associated with this Protein:
  ASTHMA AND ATOPY, SUSCEPTIBILITY TO
  PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY
  PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY (PAFAD)

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Default View: PAF-AH_p_II - pfam03403	Swiss-Prot Protein: Q13093 Identical to: NP_001161829, NP_005075 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 ↕
dbSNP	rs1805017	Polymorphism	p.ARG92HIS	N/A
Swiss-Prot	VAR_011585	Disease	p.GLN281ARG	Platelet-activating factor acetylhydrolase deficiency (PAFAD)
dbSNP	rs1805018	Polymorphism	p.ILE198THR	N/A
Swiss-Prot	VAR_047970	Polymorphism	p.LEU45PRO	N/A
Swiss-Prot	VAR_047971	Polymorphism	p.LYS191ASN	N/A
dbSNP	rs1051931	Polymorphism	p.VAL379ALA	N/A
dbSNP	rs76863441 rs16874954	Polymorphism	p.VAL279PHE	N/A
Swiss-Prot	VAR_004268	Disease	p.VAL279PHE	Platelet-activating factor acetylhydrolase deficiency (PAFAD)
OMIM	601690.0003	Disease	p.ALA379VAL	ASTHMA AND ATOPY, SUSCEPTIBILITY TO
OMIM	601690.0002	Disease	p.ILE198THR	ASTHMA AND ATOPY, SUSCEPTIBILITY TO
OMIM	601690.0001	Disease	p.VAL279PHE	PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE 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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