G132R_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.Gly132Arg G132R (Gly105Arg G105R in the mature protein which do not count signal peptide)

References (3)

Title : Long-Term Nutritional Counseling for a Patient with Lipoprotein Lipase Deficiency - Torii_2023_J.Atheroscler.Thromb__
Author(s) : Torii T , Taniguchi-Fukatsu A , Kawawaki M , Shimoura Y , Ozaki K
Ref : J Atheroscler Thromb , : , 2023
Abstract :
PubMedSearch : Torii_2023_J.Atheroscler.Thromb__
PubMedID: 36878607
Gene_locus related to this paper: human-LPL

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 compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia - Ikeda_2000_Clin.Sci.(Lond)_99_569
Author(s) : Ikeda Y , Goji K , Takagi A
Ref : Clinical Science (Lond) , 99 :569 , 2000
Abstract :
PubMedSearch : Ikeda_2000_Clin.Sci.(Lond)_99_569
PubMedID: 11099402