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.G436R p.(Gly436Arg) (G409R Gly409Arg in the mature protein) found in same allele with p.Lys434Asn in an heterozygote patient. Same mutation found in chylomicronemia cats Ginzinger et al.
| Title : Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants - Kassner_2015_Eur.J.Hum.Genet_23_1259 |
| Author(s) : Kassner U , Salewsky B , Wuhle-Demuth M , Szijarto IA , Grenkowitz T , Binner P , Marz W , Steinhagen-Thiessen E , Demuth I |
| Ref : Eur J Hum Genet , 23 :1259 , 2015 |
| Abstract : Kassner_2015_Eur.J.Hum.Genet_23_1259 |
| ESTHER : Kassner_2015_Eur.J.Hum.Genet_23_1259 |
| PubMedSearch : Kassner_2015_Eur.J.Hum.Genet_23_1259 |
| PubMedID: 25585702 |
| Gene_locus related to this paper: human-LPL |
| Title : Chylomicronemia mutations yield new insights into interactions between lipoprotein lipase and GPIHBP1 - Gin_2012_Hum.Mol.Genet_21_2961 |
| Author(s) : Gin P , Goulbourne CN , Adeyo O , Beigneux AP , Davies BS , Tat S , Voss CV , Bensadoun A , Fong LG , Young SG |
| Ref : Hum Mol Genet , 21 :2961 , 2012 |
| Abstract : Gin_2012_Hum.Mol.Genet_21_2961 |
| ESTHER : Gin_2012_Hum.Mol.Genet_21_2961 |
| PubMedSearch : Gin_2012_Hum.Mol.Genet_21_2961 |
| PubMedID: 22493000 |
| Title : A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats - Ginzinger_1996_J.Clin.Invest_97_1257 |
| Author(s) : Ginzinger DG , Lewis ME , Ma Y , Jones BR , Liu G , Jones SD |
| Ref : Journal of Clinical Investigation , 97 :1257 , 1996 |
| Abstract : Ginzinger_1996_J.Clin.Invest_97_1257 |
| ESTHER : Ginzinger_1996_J.Clin.Invest_97_1257 |
| PubMedSearch : Ginzinger_1996_J.Clin.Invest_97_1257 |
| PubMedID: 8636438 |
| Gene_locus related to this paper: felca-lipli |