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.Cys305Arg C305R (Cys278Arg C278R in the mature protein which do not count signal peptide)
| Title : Compound heterozygosity of novel missense mutations (Ser45 --> Gly, Cys278 --> Arg) in the lipoprotein lipase gene in a newborn Korean infant - |
| Author(s) : Lee J , Ko K , Ryu S , Lee K , Son C |
| Ref : Clinica Chimica Acta , 387 :172 , 2008 |
| PubMedID: 17884031 |
| 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 |