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.Cys310Tyr C310Y (Cys283Tyr C283Y in the mature protein which do not count signal peptide) decreases the specific activity\; reduces the secretion of the mutant protein significantly
| Title : Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia - Chan_2002_Hum.Mutat_20_232 |
| Author(s) : Chan LY , Lam CW , Mak YT , Tomlinson B , Tsang MW , Baum L , Masarei JR , Pang CP |
| Ref : Hum Mutat , 20 :232 , 2002 |
| Abstract : |
| PubMedSearch : Chan_2002_Hum.Mutat_20_232 |
| PubMedID: 12204001 |
| Gene_locus related to this paper: human-LPL |