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.I221T Ile221Thr CCG->CTG c.662T > C (I194T Ile194Thr in the mature protein which do not count signal peptide) rs118204061. mutation in exon5. Exon 5 is also the region with the strongest homology to pancreatic and hepatic lipase and is conserved in LPL from different species. Found also as compound heterozygote with Y88X or N318IfsX304 or S63F (Wang et al. 2022)
| Title : Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic - Bardey_2024_J.Lipid.Res__100589 |
| Author(s) : Bardey F , Rieck L , Spira D , Marz W , Binner P , Schwab S , Kleber ME , Danyel M , Barkowski R , Bobbert T , Spranger J , Steinhagen-Thiessen E , Demuth I , Kassner U |
| Ref : J Lipid Res , :100589 , 2024 |
| Abstract : |
| PubMedSearch : Bardey_2024_J.Lipid.Res__100589 |
| PubMedID: 38969064 |
| Gene_locus related to this paper: human-LPL |
| Title : Homozygous familial lipoprotein lipase deficiency without obvious coronary artery stenosis - Minamizuka_2022_Clin.Biochem__ |
| Author(s) : Minamizuka T , Kobayashi J , Tada H , Koshizaka M , Maezawa Y , Yokote K |
| Ref : Clinical Biochemistry , : , 2022 |
| Abstract : |
| PubMedSearch : Minamizuka_2022_Clin.Biochem__ |
| PubMedID: 35820489 |
| Gene_locus related to this paper: human-LPL |
| Title : Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia - Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| Author(s) : Wang S , Cheng Y , Shi Y , Zhao W , Gao L , Fang L , Jin X , Han X , Sun Q , Li G , Zhao J , Xu C |
| Ref : Front Endocrinol (Lausanne) , 13 :874608 , 2022 |
| Abstract : |
| PubMedSearch : Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| PubMedID: 35923617 |
| Gene_locus related to this paper: human-LPL |
| Title : High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency - Tani_2016_Atherosclerosis_253_7 |
| Author(s) : Tani M , Horvath KV , Lamarche B , Couture P , Burnett JR , Schaefer EJ , Asztalos BF |
| Ref : Atherosclerosis , 253 :7 , 2016 |
| Abstract : |
| PubMedSearch : Tani_2016_Atherosclerosis_253_7 |
| PubMedID: 27573733 |
| Title : Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia - Rabacchi_2015_Atherosclerosis_241_79 |
| Author(s) : Rabacchi C , Pisciotta L , Cefalu AB , Noto D , Fresa R , Tarugi P , Averna M , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 241 :79 , 2015 |
| Abstract : |
| PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedID: 25966443 |
| Gene_locus related to this paper: human-LPL |
| Title : Apolipoprotein B-100-containing lipoprotein metabolism in subjects with lipoprotein lipase gene mutations - Ooi_2012_Arterioscler.Thromb.Vasc.Biol_32_459 |
| Author(s) : Ooi EM , Russell BS , Olson E , Sun SZ , Diffenderfer MR , Lichtenstein AH , Keilson L , Barrett PH , Schaefer EJ , Sprecher DL |
| Ref : Arterioscler Thromb Vasc Biol , 32 :459 , 2012 |
| Abstract : |
| PubMedSearch : Ooi_2012_Arterioscler.Thromb.Vasc.Biol_32_459 |
| PubMedID: 22095987 |
| Title : Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650) - Wang_2007_Arterioscler.Thromb.Vasc.Biol_27_2450 |
| Author(s) : Wang J , Cao H , Ban MR , Kennedy BA , Zhu S , Anand S , Yusuf S , Pollex RL , Hegele RA |
| Ref : Arterioscler Thromb Vasc Biol , 27 :2450 , 2007 |
| Abstract : |
| PubMedSearch : Wang_2007_Arterioscler.Thromb.Vasc.Biol_27_2450 |
| PubMedID: 17717288 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations - Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| Author(s) : Nierman MC , Peter J , Khoo KL , Defesche JC |
| Ref : J Inherit Metab Dis , 29 :686 , 2006 |
| Abstract : |
| PubMedSearch : Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| PubMedID: 16972177 |
| Gene_locus related to this paper: human-LPL |
| Title : Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency - Santer_2005_J.Inherit.Metab.Dis_28_137 |
| Author(s) : Santer R , Gokcay G , Demirkol M , Gal A , Lukacs Z |
| Ref : J Inherit Metab Dis , 28 :137 , 2005 |
| Abstract : |
| PubMedSearch : Santer_2005_J.Inherit.Metab.Dis_28_137 |
| PubMedID: 15877202 |
| Title : Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene - Peterson_2002_J.Lipid.Res_43_398 |
| Author(s) : Peterson J , Ayyobi AF , Ma Y , Henderson H , Reina M , Deeb SS , Santamarina-Fojo S , Hayden MR , Brunzell JD |
| Ref : J Lipid Res , 43 :398 , 2002 |
| Abstract : |
| PubMedSearch : Peterson_2002_J.Lipid.Res_43_398 |
| PubMedID: 11893776 |
| Gene_locus related to this paper: human-LPL |
| Title : A novel frameshift mutation in exon 6 (the site of Asn 291) of the lipoprotein lipase gene in type I hyperlipidemia - Kobayashi_1999_Clin.Chim.Acta_285_173 |
| Author(s) : Kobayashi J , Nagashima I , Taira K , Hikita M , Tamura K , Bujo H , Morisaki N , Saito Y |
| Ref : Clinica Chimica Acta , 285 :173 , 1999 |
| Abstract : |
| PubMedSearch : Kobayashi_1999_Clin.Chim.Acta_285_173 |
| PubMedID: 10481934 |
| Gene_locus related to this paper: human-LPL |
| Title : Higher triglycerides, lower high-density lipoprotein cholesterol, and higher systolic blood pressure in lipoprotein lipase-deficient heterozygotes. A preliminary report - Sprecher_1996_Circulation_94_3239 |
| Author(s) : Sprecher DL , Harris BV , Stein EA , Bellet PS , Keilson LM , Simbartl LA |
| Ref : Circulation , 94 :3239 , 1996 |
| Abstract : |
| PubMedSearch : Sprecher_1996_Circulation_94_3239 |
| PubMedID: 8989135 |
| Title : Trp64->nonsense mutation in the lipoprotein lipase gene - Sprecher_1992_J.Lipid.Res_33_859 |
| Author(s) : Sprecher DL , Kobayashi J , Rymaszewski M , Goldberg IJ , Harris BV , Bellet PS , Ameis D , Yunker RL , Black DM , Stein EA , Schotz MC , Wiginton DA |
| Ref : J Lipid Res , 33 :859 , 1992 |
| Abstract : |
| PubMedSearch : Sprecher_1992_J.Lipid.Res_33_859 |
| PubMedID: 1512512 |
| Title : Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome - Dichek_1991_J.Biol.Chem_266_473 |
| Author(s) : Dichek HL , Fojo SS , Beg OU , Skarlatos SI , Brunzell JD , Cutler GB, Jr. , Brewer HB, Jr. |
| Ref : Journal of Biological Chemistry , 266 :473 , 1991 |
| Abstract : |
| PubMedSearch : Dichek_1991_J.Biol.Chem_266_473 |
| PubMedID: 1702428 |
| Gene_locus related to this paper: human-LPL |
| Title : Identification of the molecular defects underlying chylomicronemia in the majority of 75 separate probands with LPL deficiency. (Abstract) - |
| Author(s) : Henderson H , Ma Y , Kastelein J , Roederer G , Julien P , Brunzell J , Hayden MR |
| Ref : Clin Res , 39 :336A , 1991 |
| PubMedID: |
| Title : Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin - Henderson_1991_J.Clin.Invest_87_2005 |
| Author(s) : Henderson HE , Ma Y , Hassan MF , Monsalve MV , Marais AD , Winkler F , Gubernator K , Peterson J , Brunzell JD , Hayden MR |
| Ref : J Clinical Investigation , 87 :2005 , 1991 |
| Abstract : |
| PubMedSearch : Henderson_1991_J.Clin.Invest_87_2005 |
| PubMedID: 1674945 |
| Gene_locus related to this paper: human-LPL |