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.G222E Gly222Glu (G195E Gly195Glu in the mature protein which do not count signal peptide) rs7118204075
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 |