G166S_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.Gly166Ser G166S (G670->A) in exon 4 (Gly139Ser G139S in the mature protein which do not count signal peptide)

References (1)

Title : Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent - Bijvoet_1994_Hum.Genet_93_339
Author(s) : Bijvoet SM , Bruin T , Tuzgol S , Bakker HD , Hayden MR , Kastelein JJ
Ref : Hum Genet , 93 :339 , 1994
Abstract :
PubMedSearch : Bijvoet_1994_Hum.Genet_93_339
PubMedID: 8125488