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.Ile232Ser I232S (I205S in the mature protein as mentionned in the publication which do not count signal peptide) mutation in exon5. Exon 5 is also the region with the strongest homology to pancreatic and hepatic lipase and is conserved in LPL from different species. rs770601263
| Title : High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency - Tani_2016_Atherosclerosis_253_7 |
| Author(s) : Tani M , Horvath KV , Lamarche B , Couture P , Burnett JR , Schaefer EJ , Asztalos BF |
| Ref : Atherosclerosis , 253 :7 , 2016 |
| Abstract : Tani_2016_Atherosclerosis_253_7 |
| ESTHER : Tani_2016_Atherosclerosis_253_7 |
| PubMedSearch : Tani_2016_Atherosclerosis_253_7 |
| PubMedID: 27573733 |
| Title : Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene - Peterson_2002_J.Lipid.Res_43_398 |
| Author(s) : Peterson J , Ayyobi AF , Ma Y , Henderson H , Reina M , Deeb SS , Santamarina-Fojo S , Hayden MR , Brunzell JD |
| Ref : J Lipid Res , 43 :398 , 2002 |
| Abstract : Peterson_2002_J.Lipid.Res_43_398 |
| ESTHER : Peterson_2002_J.Lipid.Res_43_398 |
| PubMedSearch : Peterson_2002_J.Lipid.Res_43_398 |
| PubMedID: 11893776 |
| Gene_locus related to this paper: human-LPL |
| Title : Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes - Reina_1992_J.Lipid.Res_33_1823 |
| Author(s) : Reina M , Brunzell JD , Deeb SS |
| Ref : J Lipid Res , 33 :1823 , 1992 |
| Abstract : Reina_1992_J.Lipid.Res_33_1823 |
| ESTHER : Reina_1992_J.Lipid.Res_33_1823 |
| PubMedSearch : Reina_1992_J.Lipid.Res_33_1823 |
| PubMedID: 1479292 |
| Gene_locus related to this paper: human-LPL |