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.R270C Arg270Cys (R243C Arg243Cys in the mature protein which do not count signal peptide) rc118204077 Cryo-EM structure of the R243C mutant of human Prolyl Endopeptidase-Like (PREPL) protein involved in Congenital myasthenic syndrome-22 (CMS22) Theodoropoulou, A.,Cavani, E.,Antanasijevic, A.,Marcaida, M.J.,Dal Peraro, M. (8RFB)
| 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 : Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996 - Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| Author(s) : Maruyama T , Yamashita S , Matsuzawa Y , Bujo H , Takahashi K , Saito Y , Ishibashi S , Ohashi K , Shionoiri F , Gotoda T , Yamada N , Kita T |
| Ref : J Atheroscler Thromb , 11 :131 , 2004 |
| Abstract : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| ESTHER : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| PubMedSearch : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| PubMedID: 15256764 |
| 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 : Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries - Ma_1994_Hum.Mutat_3_52 |
| Author(s) : Ma Y , Liu MS , Chitayat D , Bruin T , Beisiegel U , Benlian P , Foubert L , De Gennes JL , Funke H , Forsythe I , Blaichman S , Papanikolaou M , Erkelens DW , Kastelein J , Brunzell JD , Hayden MR |
| Ref : Hum Mutat , 3 :52 , 1994 |
| Abstract : Ma_1994_Hum.Mutat_3_52 |
| ESTHER : Ma_1994_Hum.Mutat_3_52 |
| PubMedSearch : Ma_1994_Hum.Mutat_3_52 |
| PubMedID: 7906986 |