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 :
c.632C>A (p.Thr211Lys) (T184K Thr184Lys in the mature protein which do not count signal peptide). in three homozygous patients rs118204081
| Title : Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis - Heath_2024_JIMD.Rep_65_239 |
| Author(s) : Heath O , Allender B , Smith J , Savva E , Spencer L , Bannister EG , Brown NJ , Evans MS , Kiss S , Rozen TH , Yaplito-Lee J |
| Ref : JIMD Rep , 65 :239 , 2024 |
| Abstract : |
| PubMedSearch : Heath_2024_JIMD.Rep_65_239 |
| PubMedID: 38974610 |
| Gene_locus related to this paper: human-LPL |