D36N_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.Asp36Asn D36N (Asp9Asn D9N in the mature protein which do not count signal peptide). rs1801177

References (28)

Title : Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis - Ariza_2020_Clin.Chim.Acta_500_163
Author(s) : Ariza MJ , Perez-Lopez C , Almagro F , Sanchez-Tevar AM , Muniz-Grijalvo O , Alvarez-Sala Walter LA , Rioja J , Sanchez-Chaparro MA , Valdivielso P
Ref : Clinica Chimica Acta , 500 :163 , 2020
Abstract : Ariza_2020_Clin.Chim.Acta_500_163
ESTHER : Ariza_2020_Clin.Chim.Acta_500_163
PubMedSearch : Ariza_2020_Clin.Chim.Acta_500_163
PubMedID: 31669931
Gene_locus related to this paper: human-LPL

Title : The D9N, N291S, and T495G Polymorphisms of the Lipoprotein Lipase Gene Are Not Associated with Cerebral Infarction - Ceja-Espiritu_2016_J.Stroke.Cerebrovasc.Dis_25_985
Author(s) : Ceja-Espiritu G , Delgado-Enciso I , Ramirez-Flores M , Guzman-Esquivel J , Baltazar-Rodriguez LM
Ref : J Stroke Cerebrovasc Dis , 25 :985 , 2016
Abstract : Ceja-Espiritu_2016_J.Stroke.Cerebrovasc.Dis_25_985
ESTHER : Ceja-Espiritu_2016_J.Stroke.Cerebrovasc.Dis_25_985
PubMedSearch : Ceja-Espiritu_2016_J.Stroke.Cerebrovasc.Dis_25_985
PubMedID: 26853140
Gene_locus related to this paper: human-LPL

Title : Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia - Surendran_2012_J.Intern.Med_272_185
Author(s) : Surendran RP , Visser ME , Heemelaar S , Wang J , Peter J , Defesche JC , Kuivenhoven JA , Hosseini M , Peterfy M , Kastelein JJ , Johansen CT , Hegele RA , Stroes ES , Dallinga-Thie GM
Ref : J Intern Med , 272 :185 , 2012
Abstract : Surendran_2012_J.Intern.Med_272_185
ESTHER : Surendran_2012_J.Intern.Med_272_185
PubMedSearch : Surendran_2012_J.Intern.Med_272_185
PubMedID: 22239554
Gene_locus related to this paper: human-LPL

Title : Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study - Ariza_2010_BMC.Med.Genet_11_66
Author(s) : Ariza MJ , Sanchez-Chaparro MA , Baron FJ , Hornos AM , Calvo-Bonacho E , Rioja J , Valdivielso P , Gelpi JA , Gonzalez-Santos P
Ref : BMC Med Genet , 11 :66 , 2010
Abstract : Ariza_2010_BMC.Med.Genet_11_66
ESTHER : Ariza_2010_BMC.Med.Genet_11_66
PubMedSearch : Ariza_2010_BMC.Med.Genet_11_66
PubMedID: 20429872

Title : Association of polymorphisms in genes involved in lipoprotein metabolism with plasma concentrations of remnant lipoproteins and HDL subpopulations before and after hormone therapy in postmenopausal women - Lamon-Fava_2010_Clin.Endocrinol.(Oxf)_72_169
Author(s) : Lamon-Fava S , Asztalos BF , Howard TD , Reboussin DM , Horvath KV , Schaefer EJ , Herrington DM
Ref : Clinical Endocrinology (Oxf) , 72 :169 , 2010
Abstract : Lamon-Fava_2010_Clin.Endocrinol.(Oxf)_72_169
ESTHER : Lamon-Fava_2010_Clin.Endocrinol.(Oxf)_72_169
PubMedSearch : Lamon-Fava_2010_Clin.Endocrinol.(Oxf)_72_169
PubMedID: 19489872

Title : Association of lipoprotein lipase D9N polymorphism with myocardial infarction in type 2 diabetes: the genetics, outcomes, and lipids in type 2 diabetes (GOLD) study - Izar_2009_Atherosclerosis_204_165
Author(s) : Izar MC , Helfenstein T , Ihara SS , Relvas WG , Santos AO , Fischer SC , Pinto LE , Lopes IE , Pomaro DR , Fonseca MI , Bodanese LC , Moriguchi EH , Saraiva JF , Introcaso L , Souza AD , Scartezini M , Torres KP , Zagury L , Jardim PC , Costa EA , Tacito LH , Forti A , Magalhaes ME , Chacra AR , Bertolami MC , Loures-Vale AA , Barros MA , Xavier HT , Lyra R , Argamanijan D , Guimaraes A , Novazzi JP , Kasinski N , Afiune A , Martinez TL , Santos RD , Nicolau JC , Cesar LA , Povoa RM , Carvalho AC , Han SW , Fonseca FA
Ref : Atherosclerosis , 204 :165 , 2009
Abstract : Izar_2009_Atherosclerosis_204_165
ESTHER : Izar_2009_Atherosclerosis_204_165
PubMedSearch : Izar_2009_Atherosclerosis_204_165
PubMedID: 18823627
Gene_locus related to this paper: human-LPL

Title : Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis - Sagoo_2008_Am.J.Epidemiol_168_1233
Author(s) : Sagoo GS , Tatt I , Salanti G , Butterworth AS , Sarwar N , van Maarle M , Jukema JW , Wiman B , Kastelein JJ , Bennet AM , de Faire U , Danesh J , Higgins JP
Ref : Am J Epidemiol , 168 :1233 , 2008
Abstract : Sagoo_2008_Am.J.Epidemiol_168_1233
ESTHER : Sagoo_2008_Am.J.Epidemiol_168_1233
PubMedSearch : Sagoo_2008_Am.J.Epidemiol_168_1233
PubMedID: 18922999

Title : Effect of obesity on HDL and LDL particle sizes in carriers of the null P207L or defective D9N mutation in the lipoprotein lipase gene: the Quebec LipD Study - Ruel_2003_Int.J.Obes.Relat.Metab.Disord_27_631
Author(s) : Ruel IL , Gaudet D , Perron P , Bergeron J , Julien P , Lamarche B
Ref : Int J Obes Relat Metab Disord , 27 :631 , 2003
Abstract : Ruel_2003_Int.J.Obes.Relat.Metab.Disord_27_631
ESTHER : Ruel_2003_Int.J.Obes.Relat.Metab.Disord_27_631
PubMedSearch : Ruel_2003_Int.J.Obes.Relat.Metab.Disord_27_631
PubMedID: 12704407

Title : Lipoprotein lipase gene polymorphisms in Croatian patients with coronary artery disease - Ferencak_2003_Clin.Chem.Lab.Med_41_541
Author(s) : Ferencak G , Pasalic D , Grskovic B , Cheng S , Fijal B , Sesto M , Skodlar J , Rukavina AS
Ref : Clinical Chemistry & Laboratory Medicine , 41 :541 , 2003
Abstract : Ferencak_2003_Clin.Chem.Lab.Med_41_541
ESTHER : Ferencak_2003_Clin.Chem.Lab.Med_41_541
PubMedSearch : Ferencak_2003_Clin.Chem.Lab.Med_41_541
PubMedID: 12747600

Title : Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined hyperlipidemia - Campagna_2002_Metabolism_51_1298
Author(s) : Campagna F , Montali A , Baroni MG , Maria AT , Ricci G , Antonini R , Verna R , Arca M
Ref : Metabolism , 51 :1298 , 2002
Abstract : Campagna_2002_Metabolism_51_1298
ESTHER : Campagna_2002_Metabolism_51_1298
PubMedSearch : Campagna_2002_Metabolism_51_1298
PubMedID: 12370850

Title : Effect of apolipoprotein E, peroxisome proliferator-activated receptor alpha and lipoprotein lipase gene mutations on the ability of fenofibrate to improve lipid profiles and reach clinical guideline targets among hypertriglyceridemic patients - Brisson_2002_Pharmacogenet_12_313
Author(s) : Brisson D , Ledoux K , Bosse Y , St-Pierre J , Julien P , Perron P , Hudson TJ , Vohl MC , Gaudet D
Ref : Pharmacogenetics , 12 :313 , 2002
Abstract : Brisson_2002_Pharmacogenet_12_313
ESTHER : Brisson_2002_Pharmacogenet_12_313
PubMedSearch : Brisson_2002_Pharmacogenet_12_313
PubMedID: 12042669

Title : Lipoprotein lipase D9N, N291S and S447X polymorphisms: their influence on premature coronary heart disease and plasma lipids - van Bockxmeer_2001_Atherosclerosis_157_123
Author(s) : van Bockxmeer FM , Liu Q , Mamotte C , Burke V , Taylor R
Ref : Atherosclerosis , 157 :123 , 2001
Abstract : van Bockxmeer_2001_Atherosclerosis_157_123
ESTHER : van Bockxmeer_2001_Atherosclerosis_157_123
PubMedSearch : van Bockxmeer_2001_Atherosclerosis_157_123
PubMedID: 11427211

Title : Frequency and allelic association of common variants in the lipoprotein lipase gene in different ethnic groups: the Wandsworth Heart and Stroke Study - Hall_2000_Genet.Epidemiol_18_203
Author(s) : Hall S , Talmud PJ , Cook DG , Wicks PD , Rothwell MJ , Strazzullo P , Sagnella GA , Cappuccio FP
Ref : Genet Epidemiol , 18 :203 , 2000
Abstract : Hall_2000_Genet.Epidemiol_18_203
ESTHER : Hall_2000_Genet.Epidemiol_18_203
PubMedSearch : Hall_2000_Genet.Epidemiol_18_203
PubMedID: 10723106

Title : The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis - Arca_2000_Clin.Genet_58_369
Author(s) : Arca M , Campagna F , Montali A , Barilla F , Mangieri E , Tanzilli G , Seccareccia F , Campa PP , Ricci G , Pannitteri G
Ref : Clin Genet , 58 :369 , 2000
Abstract : Arca_2000_Clin.Genet_58_369
ESTHER : Arca_2000_Clin.Genet_58_369
PubMedSearch : Arca_2000_Clin.Genet_58_369
PubMedID: 11140837

Title : Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins - Boer_1999_Clin.Genet_56_158
Author(s) : Boer JM , Kuivenhoven JA , Feskens EJ , Schouten EG , Havekes LM , Seidell JC , Kastelein JJ , Kromhout D
Ref : Clin Genet , 56 :158 , 1999
Abstract : Boer_1999_Clin.Genet_56_158
ESTHER : Boer_1999_Clin.Genet_56_158
PubMedSearch : Boer_1999_Clin.Genet_56_158
PubMedID: 10517255
Gene_locus related to this paper: human-LPL

Title : Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women - Kastelein_1999_Clin.Genet_56_297
Author(s) : Kastelein JJ , Ordovas JM , Wittekoek ME , Pimstone SN , Wilson WF , Gagne SE , Larson MG , Schaefer EJ , Boer JM , Gerdes C , Hayden MR
Ref : Clin Genet , 56 :297 , 1999
Abstract : Kastelein_1999_Clin.Genet_56_297
ESTHER : Kastelein_1999_Clin.Genet_56_297
PubMedSearch : Kastelein_1999_Clin.Genet_56_297
PubMedID: 10636448

Title : Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men. The Copenhagen city heart study - Wittrup_1999_Arterioscler.Thromb.Vasc.Biol_19_1535
Author(s) : Wittrup HH , Tybjaerg-Hansen A , Steffensen R , Deeb SS , Brunzell JD , Jensen G , Nordestgaard BG
Ref : Arterioscler Thromb Vasc Biol , 19 :1535 , 1999
Abstract : Wittrup_1999_Arterioscler.Thromb.Vasc.Biol_19_1535
ESTHER : Wittrup_1999_Arterioscler.Thromb.Vasc.Biol_19_1535
PubMedSearch : Wittrup_1999_Arterioscler.Thromb.Vasc.Biol_19_1535
PubMedID: 10364086

Title : Association of pre-eclampsia with common coding sequence variations in the lipoprotein lipase gene - Hubel_1999_Clin.Genet_56_289
Author(s) : Hubel CA , Roberts JM , Ferrell RE
Ref : Clin Genet , 56 :289 , 1999
Abstract : Hubel_1999_Clin.Genet_56_289
ESTHER : Hubel_1999_Clin.Genet_56_289
PubMedSearch : Hubel_1999_Clin.Genet_56_289
PubMedID: 10636447

Title : Lipoprotein lipase activity is decreased in a large cohort of patients with coronary artery disease and is associated with changes in lipids and lipoproteins - Henderson_1999_J.Lipid.Res_40_735
Author(s) : Henderson HE , Kastelein JJ , Zwinderman AH , Gagne E , Jukema JW , Reymer PW , Groenemeyer BE , Lie KI , Bruschke AV , Hayden MR , Jansen H
Ref : J Lipid Res , 40 :735 , 1999
Abstract : Henderson_1999_J.Lipid.Res_40_735
ESTHER : Henderson_1999_J.Lipid.Res_40_735
PubMedSearch : Henderson_1999_J.Lipid.Res_40_735
PubMedID: 10191298

Title : The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group - Kastelein_1998_Clin.Genet_53_27
Author(s) : Kastelein JJ , Groenemeyer BE , Hallman DM , Henderson H , Reymer PW , Gagne SE , Jansen H , Seidell JC , Kromhout D , Jukema JW , Bruschke AV , Boerwinkle E , Hayden MR
Ref : Clin Genet , 53 :27 , 1998
Abstract : Kastelein_1998_Clin.Genet_53_27
ESTHER : Kastelein_1998_Clin.Genet_53_27
PubMedSearch : Kastelein_1998_Clin.Genet_53_27
PubMedID: 9550358

Title : Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations: studies in the fasting and postprandial states: the European Atherosclerosis Research Studies - Gerdes_1997_Circulation_96_733
Author(s) : Gerdes C , Fisher RM , Nicaud V , Boer J , Humphries SE , Talmud PJ , Faergeman O
Ref : Circulation , 96 :733 , 1997
Abstract : Gerdes_1997_Circulation_96_733
ESTHER : Gerdes_1997_Circulation_96_733
PubMedSearch : Gerdes_1997_Circulation_96_733
PubMedID: 9264476

Title : Lipoprotein lipase gene variants and risk of coronary disease: a quantitative analysis of population-based studies - Hokanson_1997_Int.J.Clin.Lab.Res_27_24
Author(s) : Hokanson JE
Ref : Int J Clin Lab Res , 27 :24 , 1997
Abstract : Hokanson_1997_Int.J.Clin.Lab.Res_27_24
ESTHER : Hokanson_1997_Int.J.Clin.Lab.Res_27_24
PubMedSearch : Hokanson_1997_Int.J.Clin.Lab.Res_27_24
PubMedID: 9144024

Title : Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis - Fisher_1997_Atherosclerosis_135_145
Author(s) : Fisher RM , Humphries SE , Talmud PJ
Ref : Atherosclerosis , 135 :145 , 1997
Abstract : Fisher_1997_Atherosclerosis_135_145
ESTHER : Fisher_1997_Atherosclerosis_135_145
PubMedSearch : Fisher_1997_Atherosclerosis_135_145
PubMedID: 9430364

Title : Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His) - Rouis_1996_J.Lipid.Res_37_651
Author(s) : Rouis M , Lohse P , Dugi KA , Beg OU , Ronan R , Talley GD , Brunzell JD , Santamarina-Fojo S
Ref : J Lipid Res , 37 :651 , 1996
Abstract : Rouis_1996_J.Lipid.Res_37_651
ESTHER : Rouis_1996_J.Lipid.Res_37_651
PubMedSearch : Rouis_1996_J.Lipid.Res_37_651
PubMedID: 8728326

Title : Association between the LPL-D9N mutation in the lipoprotein lipase gene and plasma lipid traits in myocardial infarction survivors from the ECTIM Study - Mailly_1996_Atherosclerosis_122_21
Author(s) : Mailly F , Fisher RM , Nicaud V , Luong LA , Evans AE , Marques-Vidal P , Luc G , Arveiler D , Bard JM , Poirier O , Talmud PJ , Humphries SE
Ref : Atherosclerosis , 122 :21 , 1996
Abstract : Mailly_1996_Atherosclerosis_122_21
ESTHER : Mailly_1996_Atherosclerosis_122_21
PubMedSearch : Mailly_1996_Atherosclerosis_122_21
PubMedID: 8724108

Title : Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia - de Bruin_1996_Eur.J.Clin.Invest_26_631
Author(s) : de Bruin TW , Mailly F , van Barlingen HH , Fisher R , Castro Cabezas M , Talmud P , Dallinga-Thie GM , Humphries SE
Ref : European Journal of Clinical Investigation , 26 :631 , 1996
Abstract : de Bruin_1996_Eur.J.Clin.Invest_26_631
ESTHER : de Bruin_1996_Eur.J.Clin.Invest_26_631
PubMedSearch : de Bruin_1996_Eur.J.Clin.Invest_26_631
PubMedID: 8872057
Gene_locus related to this paper: human-LPL

Title : A common variant in the gene for lipoprotein lipase (Asp9-->\;Asn). Functional implications and prevalence in normal and hyperlipidemic subjects - Mailly_1995_Arterioscler.Thromb.Vasc.Biol_15_468
Author(s) : Mailly F , Tugrul Y , Reymer PW , Bruin T , Seed M , Groenemeyer BF , Asplund-Carlson A , Vallance D , Winder AF , Miller GJ , et al.
Ref : Arterioscler Thromb Vasc Biol , 15 :468 , 1995
Abstract : Mailly_1995_Arterioscler.Thromb.Vasc.Biol_15_468
ESTHER : Mailly_1995_Arterioscler.Thromb.Vasc.Biol_15_468
PubMedSearch : Mailly_1995_Arterioscler.Thromb.Vasc.Biol_15_468
PubMedID: 7749858

Title : The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity -
Author(s) : Nevin DN , Brunzell JD , Deeb SS
Ref : Arteriosclerosis Thromb , 14 :869 , 1994
PubMedID: