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.K434N p.Lys434Asn (K407N Lys407Asn in the mature protein) found in same allele with p.(Gly436Arg) in an heterozygote patient
| 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 |