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.V208I Val208Ile C->G (V181I Val181ILe in the mature protein which do not count signal peptide) rs568397156
| Title : [Mutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetes] - Yang_2003_Zhongguo.Yi.Xue.Ke.Xue.Yuan.Xue.Bao_25_134 |
| Author(s) : Yang T , Lam CW , Tsang MW , Chan LY , Poon PM , Huang SZ , Pang CP |
| Ref : Zhongguo Yi Xue Ke Xue Yuan Xue Bao , 25 :134 , 2003 |
| Abstract : |
| PubMedSearch : Yang_2003_Zhongguo.Yi.Xue.Ke.Xue.Yuan.Xue.Bao_25_134 |
| PubMedID: 12905705 |
| Title : Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes - Yang_2003_Hum.Mutat_21_453 |
| Author(s) : Yang T , Pang CP , Tsang MW , Lam CW , Poon PM , Chan LY , Wu XQ , Tomlinson B , Baum L |
| Ref : Hum Mutat , 21 :453 , 2003 |
| Abstract : |
| PubMedSearch : Yang_2003_Hum.Mutat_21_453 |
| PubMedID: 12655575 |
| Title : A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia) - Haubenwallner_1993_Genomics_18_392 |
| Author(s) : Haubenwallner S , Horl G , Shachter NS , Presta E , Fried SK , Hofler G , Kostner GM , Breslow JL , Zechner R |
| Ref : Genomics , 18 :392 , 1993 |
| Abstract : |
| PubMedSearch : Haubenwallner_1993_Genomics_18_392 |
| PubMedID: 8288243 |
| Gene_locus related to this paper: human-LPL |