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.D277N (Asp277ASn) GAC->AAC (Asp250ASn D250N in the mature protein which do not count signal peptide) . Found also in compound heterozygote with the mutation G215E or H229R or N318S and also as simple heterozygote.Also with mutations in APOA5 and GPIHBP1 rs118204068
| 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 : Assessment of French patients with LPL deficiency for French Canadian mutations - Foubert_1997_J.Med.Genet_34_672 |
| Author(s) : Foubert L , De Gennes JL , Lagarde JP , Ehrenborg E , Raisonnier A , Girardet JP , Hayden MR , Benlian P |
| Ref : Journal of Medical Genetics , 34 :672 , 1997 |
| Abstract : Foubert_1997_J.Med.Genet_34_672 |
| ESTHER : Foubert_1997_J.Med.Genet_34_672 |
| PubMedSearch : Foubert_1997_J.Med.Genet_34_672 |
| PubMedID: 9279761 |
| Title : Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene - Benlian_1996_N.Engl.J.Med_335_848 |
| Author(s) : Benlian P , De Gennes JL , Foubert L , Zhang H , Gagne SE , Hayden M |
| Ref : N Engl J Med , 335 :848 , 1996 |
| Abstract : Benlian_1996_N.Engl.J.Med_335_848 |
| ESTHER : Benlian_1996_N.Engl.J.Med_335_848 |
| PubMedSearch : Benlian_1996_N.Engl.J.Med_335_848 |
| PubMedID: 8778602 |
| Gene_locus related to this paper: human-LPL |
| Title : Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia - |
| Author(s) : Wiebusch H , Funke H , Bruin T , Bucher H , von Eckardstein A , Kastelein JJ , Assmann G |
| Ref : Hum Mutat , 8 :381 , 1996 |
| PubMedID: 8956048 |
| Gene_locus related to this paper: human-LPL |
| Title : A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency - Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| Author(s) : Ishimura-Oka K , Semenkovich CF , Faustinella F , Goldberg IJ , Shachter N , Smith LC , Coleman T , Hide WA , Brown WV , Oka K , et al. |
| Ref : J Lipid Res , 33 :745 , 1992 |
| Abstract : Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| ESTHER : Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| PubMedSearch : Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| PubMedID: 1619366 |
| Gene_locus related to this paper: human-LPL |
| Title : A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries - Ma_1992_Genomics_13_649 |
| Author(s) : Ma Y , Wilson BI , Bijvoet S , Henderson HE , Cramb E , Roederer G , Ven Murthy MR , Julien P , Bakker HD , Kastelein JJ , Brunzel JD , Hayden MR |
| Ref : Genomics , 13 :649 , 1992 |
| Abstract : Ma_1992_Genomics_13_649 |
| ESTHER : Ma_1992_Genomics_13_649 |
| PubMedSearch : Ma_1992_Genomics_13_649 |
| PubMedID: 1639392 |
| Gene_locus related to this paper: human-LPL |