L313P_human-LPL

General

Gene Locus : human-LPL

Mode of mutation : Natural mutant

Disease : Hyperlipoproteinemia TypeI

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.Leu313Pro L313 (p.Leu298Pro L298P in the mature protein)

References (1)

Title : Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene - Benlian_1996_N.Engl.J.Med_335_848
Author(s) : Benlian P , De Gennes JL , Foubert L , Zhang H , Gagne SE , Hayden M
Ref : N Engl J Med , 335 :848 , 1996
Abstract :
PubMedSearch : Benlian_1996_N.Engl.J.Med_335_848
PubMedID: 8778602
Gene_locus related to this paper: human-LPL