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.M404R Met404Arg c.1211 T > G (Met377Arg M377R in the mature protein). An individual with severe hypertriglyceridemia and recurrent pancreatitis from the Lipid Clinic at Sahlgrenska University HospitalPatient 1 was compound heterozygous for three known variants: c.337T > C (W113R), c.644G > A (G215E) and c.1211T > G (M404R)
| Title : Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia - Caddeo_2018_Nutr.Metab.Cardiovasc.Dis_28_158 |
| Author(s) : Caddeo A , Mancina RM , Pirazzi C , Russo C , Sasidharan K , Sandstedt J , Maurotti S , Montalcini T , Pujia A , Leren TP , Romeo S , Pingitore P |
| Ref : Nutr Metab Cardiovasc Dis , 28 :158 , 2018 |
| Abstract : |
| PubMedSearch : Caddeo_2018_Nutr.Metab.Cardiovasc.Dis_28_158 |
| PubMedID: 29288010 |
| Gene_locus related to this paper: human-LPL |
| Title : Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia - Pingitore_2016_J.Clin.Lipidol_10_816 |
| Author(s) : Pingitore P , Lepore SM , Pirazzi C , Mancina RM , Motta BM , Valenti L , Berge KE , Retterstol K , Leren TP , Wiklund O , Romeo S |
| Ref : J Clin Lipidol , 10 :816 , 2016 |
| Abstract : |
| PubMedSearch : Pingitore_2016_J.Clin.Lipidol_10_816 |
| PubMedID: 27578112 |
| Gene_locus related to this paper: human-LPL |