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)
| 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 : Torii_2023_J.Atheroscler.Thromb__ |
| ESTHER : Torii_2023_J.Atheroscler.Thromb__ |
| 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 : 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 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 : Ikeda_2000_Clin.Sci.(Lond)_99_569 |
| ESTHER : Ikeda_2000_Clin.Sci.(Lond)_99_569 |
| PubMedSearch : Ikeda_2000_Clin.Sci.(Lond)_99_569 |
| PubMedID: 11099402 |