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 : c.928T>C p.C310R p.Cys310Arg exon 6. Found in a compound heterozygous mutation c.88C>T\/c.928 T>C of exon 1 and exon 6 a male infant 1 month old . Plama exchange therapy successful || p.Cys310Arg c.T928C (Cys283Arg C283R in the mature protein which do not count signal peptide) in exon 6. One heterozygote patient and one compound heterozygote with c.A1187T (p.E396V (E369V) in exon 8
| 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 : Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report - Han_2022_Medicine.(Baltimore)_101_e29689 |
| Author(s) : Han L , Qiang G , Yang L , Kou R , Li Q , Xin M , Liu R , Zhang Z |
| Ref : Medicine (Baltimore) , 101 :e29689 , 2022 |
| Abstract : Han_2022_Medicine.(Baltimore)_101_e29689 |
| ESTHER : Han_2022_Medicine.(Baltimore)_101_e29689 |
| PubMedSearch : Han_2022_Medicine.(Baltimore)_101_e29689 |
| PubMedID: 35960041 |
| Gene_locus related to this paper: human-LPL |
| Title : Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R\/E396V) in a Chinese family associated with recurrent acute pancreatitis - Lun_2017_Oncotarget_8_47741 |
| Author(s) : Lun Y , Sun X , Wang P , Chi J , Hou X , Wang Y |
| Ref : Oncotarget , 8 :47741 , 2017 |
| Abstract : Lun_2017_Oncotarget_8_47741 |
| ESTHER : Lun_2017_Oncotarget_8_47741 |
| PubMedSearch : Lun_2017_Oncotarget_8_47741 |
| PubMedID: 28548960 |
| Gene_locus related to this paper: human-LPL |