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.Ser286Arg S286R c.858T>A (Ser259Arg S259R in the mature protein as mentionned in some publications which do not count signal peptide)
| Title : Familial hypertriglyceridemia: biochemical, clinical and molecular study in a Moroccan family - Bouabdellah_2015_Ann.Biol.Clin.(Paris)_73_474 |
| Author(s) : Bouabdellah M , Iraqi H , Benlian P , Berqia I , Benchekroun L , Chraibi A , Chabraoui L |
| Ref : Ann Biol Clin (Paris) , 73 :474 , 2015 |
| Abstract : |
| PubMedSearch : Bouabdellah_2015_Ann.Biol.Clin.(Paris)_73_474 |
| PubMedID: 26104879 |
| 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 : A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry - Foubert_1997_Hum.Mutat_10_179 |
| Author(s) : Foubert L , Bruin T , De Gennes JL , Ehrenborg E , Furioli J , Kastelein J , Benlian P , Hayden M |
| Ref : Hum Mutat , 10 :179 , 1997 |
| Abstract : |
| PubMedSearch : Foubert_1997_Hum.Mutat_10_179 |
| PubMedID: 9298816 |
| Gene_locus related to this paper: human-LPL |