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.L279VfsX3X Leu279ValfsTer3 (Leu252Stop L252X in the mature protein) deletion of two base pairs. Found as a compound heterozygote for M1I mutation by Wang et al.
| Title : Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency - Xia_2023_J.Clin.Lipidol__ |
| Author(s) : Xia Y , Zheng W , Du T , Gong Z , Liang L , Wang R , Yang Y , Zhang K , Lu D , Chen X , Sun Y , Xiao B , Qiu W |
| Ref : J Clin Lipidol , : , 2023 |
| Abstract : Xia_2023_J.Clin.Lipidol__ |
| ESTHER : Xia_2023_J.Clin.Lipidol__ |
| PubMedSearch : Xia_2023_J.Clin.Lipidol__ |
| PubMedID: 37858495 |
| Gene_locus related to this paper: human-LPL |
| Title : Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia - Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| Author(s) : Wang S , Cheng Y , Shi Y , Zhao W , Gao L , Fang L , Jin X , Han X , Sun Q , Li G , Zhao J , Xu C |
| Ref : Front Endocrinol (Lausanne) , 13 :874608 , 2022 |
| Abstract : Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| ESTHER : Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| PubMedSearch : Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| PubMedID: 35923617 |
| 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 : 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 : Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy - Mailly_1997_Hum.Mutat_10_465 |
| Author(s) : Mailly F , Palmen J , Muller DP , Gibbs T , Lloyd J , Brunzell J , Durrington P , Mitropoulos K , Betteridge J , Watts G , Lithell H , Angelico F , Humphries SE , Talmud PJ |
| Ref : Hum Mutat , 10 :465 , 1997 |
| Abstract : Mailly_1997_Hum.Mutat_10_465 |
| ESTHER : Mailly_1997_Hum.Mutat_10_465 |
| PubMedSearch : Mailly_1997_Hum.Mutat_10_465 |
| PubMedID: 9401010 |