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.M328I Met328Ile c.984G>T (Met301Ile M301I in the mature protein) Two homozygous patients Found also in compound heterozygote with G215E. Two Slovenian patients with a heterozygous pathogenic variant NM_000237.3:c.984G>T (p.Met328Ile) were diagnosed within the first three years of life and had triglyceride (TG) values of 16 and 20 mmol\/L.
| Title : Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review - Ain_2024_Front.Endocrinol.(Lausanne)_15_1387419 |
| Author(s) : Ain Q , Cevc M , Marusic T , Sikonja J , Sadiq F , Sustar U , Mlinaric M , Kovac J , Batool H , Khan MI , Trebusak Podkrajsek K , Bizjan BJ , Battelino T , Fras Z , Ajmal M , Groselj U |
| Ref : Front Endocrinol (Lausanne) , 15 :1387419 , 2024 |
| Abstract : |
| PubMedSearch : Ain_2024_Front.Endocrinol.(Lausanne)_15_1387419 |
| PubMedID: 38911039 |
| Gene_locus related to this paper: human-LPL |
| Title : Familial chylomicronemia syndrome. A sixty year follow-up in two siblings and their kindreds. Nosological and clinical considerations - Vigna_2022_J.Clin.Lipidol_16_591 |
| Author(s) : Vigna GB , Citroni N , Tarugi P , Fellin R |
| Ref : J Clin Lipidol , 16 :591 , 2022 |
| Abstract : |
| PubMedSearch : Vigna_2022_J.Clin.Lipidol_16_591 |
| PubMedID: 35945124 |
| 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 |