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
| 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 : Rabacchi_2015_Atherosclerosis_241_79 |
| ESTHER : Rabacchi_2015_Atherosclerosis_241_79 |
| 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 : Henderson_1998_Am.J.Med.Genet_78_313 |
| ESTHER : Henderson_1998_Am.J.Med.Genet_78_313 |
| 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 : Henderson_1993_J.Lipid.Res_34_1593 |
| ESTHER : Henderson_1993_J.Lipid.Res_34_1593 |
| PubMedSearch : Henderson_1993_J.Lipid.Res_34_1593 |
| PubMedID: 8228642 |