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.L392V Leu392Val (L365V Leu365Val in the mature protein which do not count signal peptide) also found as simple heterozygote with mutation V153M in APOA5. rs118204078
| 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 : A new Italian case of lipoprotein lipase deficiency: a Leu365- >\; Val change resulting in loss of enzyme activity - Pepe_1994_Biochem.Biophys.Res.Commun_199_570 |
| Author(s) : Pepe G , Chimienti G , Resta F , Di Perna V , Tarricone C , Lovecchio M , Colacicco AM , Capurso A |
| Ref : Biochemical & Biophysical Research Communications , 199 :570 , 1994 |
| Abstract : Pepe_1994_Biochem.Biophys.Res.Commun_199_570 |
| ESTHER : Pepe_1994_Biochem.Biophys.Res.Commun_199_570 |
| PubMedSearch : Pepe_1994_Biochem.Biophys.Res.Commun_199_570 |
| PubMedID: 8135797 |
| Gene_locus related to this paper: human-LPL |