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.R270G Arg270Gly c.808C>G found in a compound heterozygote with c.802C>T (p.His268Tyr). The patient was also found to be heterozygous for APOA5 c.-644T>C
| Title : Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection - Thaneefa_2022_Clin.Chim.Acta__ |
| Author(s) : Thowfeek Zeenath Thaneefa M , Amarakoon G , Mendis D , Jasinge E , Hooper AJ , Burnett JR |
| Ref : Clinica Chimica Acta , : , 2022 |
| Abstract : |
| PubMedSearch : Thaneefa_2022_Clin.Chim.Acta__ |
| PubMedID: 35085586 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis - |
| Author(s) : Vidanapathirana DM , Rodrigo T , Waidyanatha S , Jasinge E , Hooper AJ , Burnett JR |
| Ref : Glob Pediatr Health , 4 :2333794X17715839 , 2017 |
| PubMedID: 28695157 |
| Gene_locus related to this paper: human-LPL |
| Title : Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach - Khovidhunkit_2016_J.Clin.Lipidol_10_505 |
| Author(s) : Khovidhunkit W , Charoen S , Kiateprungvej A , Chartyingcharoen P , Muanpetch S , Plengpanich W |
| Ref : J Clin Lipidol , 10 :505 , 2016 |
| Abstract : |
| PubMedSearch : Khovidhunkit_2016_J.Clin.Lipidol_10_505 |
| PubMedID: 27206937 |
| Gene_locus related to this paper: human-LPL |
| Title : Genotype-phenotype relationships in patients with type I hyperlipoproteinemia - Chokshi_2014_J.Clin.Lipidol_8_287 |
| Author(s) : Chokshi N , Blumenschein SD , Ahmad Z , Garg A |
| Ref : J Clin Lipidol , 8 :287 , 2014 |
| Abstract : |
| PubMedSearch : Chokshi_2014_J.Clin.Lipidol_8_287 |
| PubMedID: 24793350 |
| Gene_locus related to this paper: human-LPL |