K191N_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.Lys191Asn AAG->AAC rs45454695

References (1)

Title : The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma - Kruse_2000_Am.J.Hum.Genet_66_1522
Author(s) : Kruse S , Mao XQ , Heinzmann A , Blattmann S , Roberts MH , Braun S , Gao PS , Forster J , Kuehr J , Hopkin JM , Shirakawa T , Deichmann KA
Ref : American Journal of Human Genetics , 66 :1522 , 2000
Abstract : Kruse_2000_Am.J.Hum.Genet_66_1522
ESTHER : Kruse_2000_Am.J.Hum.Genet_66_1522
PubMedSearch : Kruse_2000_Am.J.Hum.Genet_66_1522
PubMedID: 10733466
Gene_locus related to this paper: human-PLA2G7