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.A203T Ala203Thr (A176T in the mature protein which do not count signal peptide) 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 rs118204056
| Title : Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency - Xia_2023_J.Clin.Lipidol__ |
| Author(s) : Xia Y , Zheng W , Du T , Gong Z , Liang L , Wang R , Yang Y , Zhang K , Lu D , Chen X , Sun Y , Xiao B , Qiu W |
| Ref : J Clin Lipidol , : , 2023 |
| Abstract : Xia_2023_J.Clin.Lipidol__ |
| ESTHER : Xia_2023_J.Clin.Lipidol__ |
| PubMedSearch : Xia_2023_J.Clin.Lipidol__ |
| PubMedID: 37858495 |
| 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 : Tani_2016_Atherosclerosis_253_7 |
| ESTHER : Tani_2016_Atherosclerosis_253_7 |
| PubMedSearch : Tani_2016_Atherosclerosis_253_7 |
| PubMedID: 27573733 |
| 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 : Peterson_2002_J.Lipid.Res_43_398 |
| ESTHER : Peterson_2002_J.Lipid.Res_43_398 |
| PubMedSearch : Peterson_2002_J.Lipid.Res_43_398 |
| PubMedID: 11893776 |
| Gene_locus related to this paper: human-LPL |
| Title : Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization - Hata_1992_J.Biol.Chem_267_20132 |
| Author(s) : Hata A , Ridinger DN , Sutherland SD , Emi M , Kwong LK , Shuhua J , Lubbers A , Guy-Grand B , Basdevant A , Iverius PH , et al. |
| Ref : Journal of Biological Chemistry , 267 :20132 , 1992 |
| Abstract : Hata_1992_J.Biol.Chem_267_20132 |
| ESTHER : Hata_1992_J.Biol.Chem_267_20132 |
| PubMedSearch : Hata_1992_J.Biol.Chem_267_20132 |
| PubMedID: 1400331 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity - Beg_1990_Proc.Natl.Acad.Sci.U.S.A_87_3474 |
| Author(s) : Beg OU , Meng MS , Skarlatos SI , Previato L , Brunzell JD , Brewer HB, Jr. , Fojo SS |
| Ref : Proc Natl Acad Sci U S A , 87 :3474 , 1990 |
| Abstract : Beg_1990_Proc.Natl.Acad.Sci.U.S.A_87_3474 |
| ESTHER : Beg_1990_Proc.Natl.Acad.Sci.U.S.A_87_3474 |
| PubMedSearch : Beg_1990_Proc.Natl.Acad.Sci.U.S.A_87_3474 |
| PubMedID: 2110364 |
| Gene_locus related to this paper: human-LPL |