I252T_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.I252T Ile252Thr (I225T Ile225Thr in the mature protein which do not count signal peptide). Mutation in the proximal section of the amphipathic surface loop. Also found in a patient compound heterozygote with R197H mutation, or simple heterzygote. rs118204080

References (3)

Title : Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia - Rabacchi_2015_Atherosclerosis_241_79
Author(s) : Rabacchi C , Pisciotta L , Cefalu AB , Noto D , Fresa R , Tarugi P , Averna M , Bertolini S , Calandra S
Ref : Atherosclerosis , 241 :79 , 2015
Abstract :
PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79
PubMedID: 25966443
Gene_locus related to this paper: human-LPL

Title : Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event - Henderson_1998_Am.J.Med.Genet_78_313
Author(s) : Henderson HE , Bijvoet SM , Mannens MA , Bruin T , Erkelens DW , Hayden MR , Kastelein JJ
Ref : American Journal of Medicine Genet , 78 :313 , 1998
Abstract :
PubMedSearch : Henderson_1998_Am.J.Med.Genet_78_313
PubMedID: 9714430

Title : Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region - Henderson_1993_J.Lipid.Res_34_1593
Author(s) : Henderson HE , Ma Y , Liu MS , Clark-Lewis I , Maeder DL , Kastelein JJ , Brunzell JD , Hayden MR
Ref : J Lipid Res , 34 :1593 , 1993
Abstract :
PubMedSearch : Henderson_1993_J.Lipid.Res_34_1593
PubMedID: 8228642