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 : G169E Gly169glu c.680G->A (G142E Gly142glu in the mature protein which do not count signal peptide) rs118204063
| Title : The mutation Gly142-->\;Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes - Busca_1996_J.Biol.Chem_271_2139 |
| Author(s) : Busca R , Martinez M , Vilella E , Pognonec P , Deeb S , Auwerx J , Reina M , Vilaro S |
| Ref : Journal of Biological Chemistry , 271 :2139 , 1996 |
| Abstract : Busca_1996_J.Biol.Chem_271_2139 |
| ESTHER : Busca_1996_J.Biol.Chem_271_2139 |
| PubMedSearch : Busca_1996_J.Biol.Chem_271_2139 |
| PubMedID: 8567671 |
| Gene_locus related to this paper: human-LPL |
| Title : Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene - Ameis_1991_J.Clin.Invest_87_1165 |
| Author(s) : Ameis D , Kobayashi J , Davis RC , Ben-Zeev O , Malloy MJ , Kane JP , Lee G , Wong H , Havel RJ , Schotz MC |
| Ref : J Clinical Investigation , 87 :1165 , 1991 |
| Abstract : Ameis_1991_J.Clin.Invest_87_1165 |
| ESTHER : Ameis_1991_J.Clin.Invest_87_1165 |
| PubMedSearch : Ameis_1991_J.Clin.Invest_87_1165 |
| PubMedID: 2010533 |
| Gene_locus related to this paper: human-LPL |