Gene Locus : human-PLA2G7
Mode of mutation : Natural mutant
Disease : Suceptibility to asthma and atopy, Platelet-activating factor acetylhydrolase (PLA2G7) deficiency (PAFAD) coronary artery disease risk factor
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.I317N Ile317Asn c.950T>A exon 10 compound heterozygote with the common V279F mutation. This mutation would create a new N-linked glycosylation site (N-X-S) on the Lp-PLA2 protein
| Title : Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 (Lp-PLA2) deficiency patients - Ishihara_2004_J.Hum.Genet_49_302 |
| Author(s) : Ishihara M , Iwasaki T , Nagano M , Ishii J , Takano M , Kujiraoka T , Tsuji M , Hattori H , Emi M |
| Ref : J Hum Genet , 49 :302 , 2004 |
| Abstract : |
| PubMedSearch : Ishihara_2004_J.Hum.Genet_49_302 |
| PubMedID: 15148590 |
| Gene_locus related to this paper: human-PLA2G7 |