V208I_human-LPL

General

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

References (3)

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 : Yang_2003_Zhongguo.Yi.Xue.Ke.Xue.Yuan.Xue.Bao_25_134

ESTHER : Yang_2003_Zhongguo.Yi.Xue.Ke.Xue.Yuan.Xue.Bao_25_134

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 : Yang_2003_Hum.Mutat_21_453

ESTHER : Yang_2003_Hum.Mutat_21_453

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 : Haubenwallner_1993_Genomics_18_392

ESTHER : Haubenwallner_1993_Genomics_18_392

PubMedSearch : Haubenwallner_1993_Genomics_18_392

PubMedID: 8288243

Gene_locus related to this paper: human-LPL

V208I_human-LPL

General

References (3)

1. [Mutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetes]

2. Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes

3. 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)