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.Tyr315Ter Y315X (Tyr288Ter Y288X in the mature protein which do not count signal peptide.)
| Title : [Familial hyperchylomicronemia with a new mutation of the lipoprotein lipase gene] - Causeret_2001_Ann.Dermatol.Venereol_128_1343 |
| Author(s) : Causeret AS , Souillet AL , Marcais C , Prunetta V , Lachaux A , Faure M , Claudy A |
| Ref : Ann Dermatol Venereol , 128 :1343 , 2001 |
| Abstract : |
| PubMedSearch : Causeret_2001_Ann.Dermatol.Venereol_128_1343 |
| PubMedID: 11908140 |