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.Ser271Thr S271T (Ser244Thr S244T in the mature protein which do not count signal peptide) rs28934893
| Title : Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization - Hata_1992_J.Biol.Chem_267_20132 |
| Author(s) : Hata A , Ridinger DN , Sutherland SD , Emi M , Kwong LK , Shuhua J , Lubbers A , Guy-Grand B , Basdevant A , Iverius PH , et al. |
| Ref : Journal of Biological Chemistry , 267 :20132 , 1992 |
| Abstract : Hata_1992_J.Biol.Chem_267_20132 |
| ESTHER : Hata_1992_J.Biol.Chem_267_20132 |
| PubMedSearch : Hata_1992_J.Biol.Chem_267_20132 |
| PubMedID: 1400331 |
| Gene_locus related to this paper: human-LPL |
| Title : Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene - Hata_1990_Am.J.Hum.Genet_47_721 |
| Author(s) : Hata A , Emi M , Luc G , Basdevant A , Gambert P , Iverius PH , Lalouel JM |
| Ref : American Journal of Human Genetics , 47 :721 , 1990 |
| Abstract : Hata_1990_Am.J.Hum.Genet_47_721 |
| ESTHER : Hata_1990_Am.J.Hum.Genet_47_721 |
| PubMedSearch : Hata_1990_Am.J.Hum.Genet_47_721 |
| PubMedID: 2121025 |
| Gene_locus related to this paper: human-LPL |