I317N_human-PLA2G7

General

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

References (1)

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
PubMedID: 15148590
Gene_locus related to this paper: human-PLA2G7