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.Y329X Tyr329Ter (Y302X Tyr302Ter in the mature protein which do not count signal peptide). in three homozygous patients rs118204081
Title : Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis - Heath_2024_JIMD.Rep_65_239 |
Author(s) : Heath O , Allender B , Smith J , Savva E , Spencer L , Bannister EG , Brown NJ , Evans MS , Kiss S , Rozen TH , Yaplito-Lee J |
Ref : JIMD Rep , 65 :239 , 2024 |
Abstract : |
PubMedSearch : Heath_2024_JIMD.Rep_65_239 |
PubMedID: 38974610 |
Gene_locus related to this paper: human-LPL |
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 : Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)) - Bertolini_2000_Clin.Genet_57_140 |
Author(s) : Bertolini S , Simone ML , Pes GM , Ghisellini M , Rolleri M , Bellocchio A , Elicio N , Masturzo P , Calandra S |
Ref : Clin Genet , 57 :140 , 2000 |
Abstract : |
PubMedSearch : Bertolini_2000_Clin.Genet_57_140 |
PubMedID: 10735636 |
Gene_locus related to this paper: human-LPL |