A361T_human-LPL

General

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

References (2)

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 :
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 :
PubMedSearch : Kobayashi_1993_Biochem.Biophys.Res.Commun_191_1046
PubMedID: 8096693
Gene_locus related to this paper: human-LPL