Gene Locus : human-LPL, human-LPL, 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.S220R (Ser220Arg) AGC->CGC (Ser193Arg S193R in the mature protein which do not count signal peptide) rs757546424
| 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 : 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 : 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 : Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations - Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| Author(s) : Nierman MC , Peter J , Khoo KL , Defesche JC |
| Ref : J Inherit Metab Dis , 29 :686 , 2006 |
| Abstract : |
| PubMedSearch : Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| PubMedID: 16972177 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations - Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| Author(s) : Nierman MC , Peter J , Khoo KL , Defesche JC |
| Ref : J Inherit Metab Dis , 29 :686 , 2006 |
| Abstract : |
| PubMedSearch : Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| PubMedID: 16972177 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations - Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| Author(s) : Nierman MC , Peter J , Khoo KL , Defesche JC |
| Ref : J Inherit Metab Dis , 29 :686 , 2006 |
| Abstract : |
| PubMedSearch : Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| PubMedID: 16972177 |
| 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 : |
| PubMedSearch : Mailly_1997_Hum.Mutat_10_465 |
| PubMedID: 9401010 |
| 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 : |
| PubMedSearch : Mailly_1997_Hum.Mutat_10_465 |
| PubMedID: 9401010 |
| 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 : |
| PubMedSearch : Mailly_1997_Hum.Mutat_10_465 |
| PubMedID: 9401010 |