Gene Locus : human-LIPC
Mode of mutation : Natural mutant
Disease : Hepatic triglyceride lipase Deficiency
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.N215S Asn215Ser (p.p.N197S Asn197Ser in the mature protein without the 22 amino-acids of signal peptide) rs6083
| Title : Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension - Kokubo_2006_Hypertens.Res_29_611 |
| Author(s) : Kokubo Y , Tomoike H , Tanaka C , Banno M , Okuda T , Inamoto N , Kamide K , Kawano Y , Miyata T |
| Ref : Hypertens Res , 29 :611 , 2006 |
| Abstract : Kokubo_2006_Hypertens.Res_29_611 |
| ESTHER : Kokubo_2006_Hypertens.Res_29_611 |
| PubMedSearch : Kokubo_2006_Hypertens.Res_29_611 |
| PubMedID: 17137217 |
| Gene_locus related to this paper: human-LIPC |