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.E437K (Glu437Lys) (Glu410Lys E410K in the mature protein) Found in a compound heterozygote with D250N
| Title : Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia - |
| Author(s) : Wiebusch H , Funke H , Bruin T , Bucher H , von Eckardstein A , Kastelein JJ , Assmann G |
| Ref : Hum Mutat , 8 :381 , 1996 |
| PubMedID: 8956048 |
| Gene_locus related to this paper: human-LPL |