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.Ala361Thr A361T (Ala334Thr A334T in the mature protein without signal peptide) rs118204071
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 missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia - Kobayashi_1993_Biochem.Biophys.Res.Commun_191_1046 |
Author(s) : Kobayashi J , Sasaki N , Tashiro J , Inadera H , Saito Y , Yoshida S |
Ref : Biochemical & Biophysical Research Communications , 191 :1046 , 1993 |
Abstract : Kobayashi_1993_Biochem.Biophys.Res.Commun_191_1046 |
ESTHER : Kobayashi_1993_Biochem.Biophys.Res.Commun_191_1046 |
PubMedSearch : Kobayashi_1993_Biochem.Biophys.Res.Commun_191_1046 |
PubMedID: 8096693 |
Gene_locus related to this paper: human-LPL |