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.Asn70Ser N70S GAC->AAC (Asn43Ser N43S in the mature protein which do not count signal peptide) Ser for Asn43, which is believed to be an N-linked glycosylation site
| Title : Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996 - Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| Author(s) : Maruyama T , Yamashita S , Matsuzawa Y , Bujo H , Takahashi K , Saito Y , Ishibashi S , Ohashi K , Shionoiri F , Gotoda T , Yamada N , Kita T |
| Ref : J Atheroscler Thromb , 11 :131 , 2004 |
| Abstract : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| ESTHER : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| PubMedSearch : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| PubMedID: 15256764 |
| Title : A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion - Kobayashi_1994_Biochem.Biophys.Res.Commun_205_506 |
| Author(s) : Kobayashi J , Inadera H , Fujita Y , Talley G , Morisaki N , Yoshida S , Saito Y , Fojo SS , Brewer HB, Jr. |
| Ref : Biochemical & Biophysical Research Communications , 205 :506 , 1994 |
| Abstract : Kobayashi_1994_Biochem.Biophys.Res.Commun_205_506 |
| ESTHER : Kobayashi_1994_Biochem.Biophys.Res.Commun_205_506 |
| PubMedSearch : Kobayashi_1994_Biochem.Biophys.Res.Commun_205_506 |
| PubMedID: 7999071 |