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 : C266W Cys266Trp (Cys239Trp C239W in the mature protein which do not count signal peptide) rs118204082
| Title : Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->\;Trp, associated with recurrent severe pancreatitis - Hoffmann_2000_J.Clin.Endocrinol.Metab_85_4795 |
| Author(s) : Hoffmann MM , Jacob S , Luft D , Schmulling RM , Rett K , Marz W , Haring HU , Matthaei S |
| Ref : J Clinical Endocrinology Metab , 85 :4795 , 2000 |
| Abstract : Hoffmann_2000_J.Clin.Endocrinol.Metab_85_4795 |
| ESTHER : Hoffmann_2000_J.Clin.Endocrinol.Metab_85_4795 |
| PubMedSearch : Hoffmann_2000_J.Clin.Endocrinol.Metab_85_4795 |
| PubMedID: 11134145 |