R309AfsX22_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 :
c.925delC p.(Arg309Alafs*22)

References (1)

Title : Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic - Bardey_2024_J.Lipid.Res__100589
Author(s) : Bardey F , Rieck L , Spira D , Marz W , Binner P , Schwab S , Kleber ME , Danyel M , Barkowski R , Bobbert T , Spranger J , Steinhagen-Thiessen E , Demuth I , Kassner U
Ref : J Lipid Res , :100589 , 2024
Abstract :
PubMedSearch : Bardey_2024_J.Lipid.Res__100589
PubMedID: 38969064
Gene_locus related to this paper: human-LPL