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.Gly181Val G181V G-to-T transversion at the first position of exon 5 (Gly154Val G154V in the mature protein which do not count signal peptide)
| 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 : Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8 - Ikeda_2001_J.Lipid.Res_42_1072 |
| Author(s) : Ikeda Y , Takagi A , Nakata Y , Sera Y , Hyoudou S , Hamamoto K , Nishi Y , Yamamoto A |
| Ref : J Lipid Res , 42 :1072 , 2001 |
| Abstract : |
| PubMedSearch : Ikeda_2001_J.Lipid.Res_42_1072 |
| PubMedID: 11441134 |