Gene Locus : human-LIPC
Mode of mutation : Natural mutant
Disease : Hepatic triglyceride lipase Deficiency
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 : pS289F Ser289Phe c.923C>T (pS267F Ser267Phe in the mature protein without the 22 amino-acids of signal peptide) rs121912502
| Title : The role of hepatic lipase in lipoprotein metabolism - Connelly_1999_Clin.Chim.Acta_286_243 |
| Author(s) : Connelly PW |
| Ref : Clinica Chimica Acta , 286 :243 , 1999 |
| Abstract : Connelly_1999_Clin.Chim.Acta_286_243 |
| ESTHER : Connelly_1999_Clin.Chim.Acta_286_243 |
| PubMedSearch : Connelly_1999_Clin.Chim.Acta_286_243 |
| PubMedID: 10511296 |
| Title : Human hepatic lipase mutations and polymorphisms - Hegele_1992_Hum.Mutat_1_320 |
| Author(s) : Hegele RA , Tu L , Connelly PW |
| Ref : Hum Mutat , 1 :320 , 1992 |
| Abstract : Hegele_1992_Hum.Mutat_1_320 |
| ESTHER : Hegele_1992_Hum.Mutat_1_320 |
| PubMedSearch : Hegele_1992_Hum.Mutat_1_320 |
| PubMedID: 1301939 |