R270H_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.R270H Arg270His c.809G>A (R243H Arg243His in the mature protein which do not count signal peptide ) also found with S474X and associated with mutation in APOA5 S19W rs118204062

References (13)

Title : Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants - Hu_2024_Lipids.Health.Dis_23_92
Author(s) : Hu Y , Chen JM , Zuo H , Pu N , Zhang G , Duan Y , Li G , Tong Z , Li W , Li B , Yang Q
Ref : Lipids Health Dis , 23 :92 , 2024
Abstract :
PubMedSearch : Hu_2024_Lipids.Health.Dis_23_92
PubMedID: 38561841
Gene_locus related to this paper: human-LPL

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 :
PubMedSearch : Xia_2023_J.Clin.Lipidol__
PubMedID: 37858495
Gene_locus related to this paper: human-LPL

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 :
PubMedSearch : Ariza_2020_Clin.Chim.Acta_500_163
PubMedID: 31669931
Gene_locus related to this paper: human-LPL

Title : Severe hypertriglyceridemia in Japan: Differences in causes and therapeutic responses - Murase_2017_J.Clin.Lipidol_11_1383
Author(s) : Murase T , Okubo M , Ebara T , Mori Y
Ref : J Clin Lipidol , 11 :1383 , 2017
Abstract :
PubMedSearch : Murase_2017_J.Clin.Lipidol_11_1383
PubMedID: 28958672
Gene_locus related to this paper: human-LPL

Title : Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride - Buonuomo_2017_J.Clin.Lipidol_11_1329
Author(s) : Buonuomo PS , Rabacchi C , Macchiaiolo M , Trenti C , Fasano T , Tarugi P , Bartuli A , Bertolini S , Calandra S
Ref : J Clin Lipidol , 11 :1329 , 2017
Abstract :
PubMedSearch : Buonuomo_2017_J.Clin.Lipidol_11_1329
PubMedID: 28951076
Gene_locus related to this paper: human-LIPC , human-LPL

Title : Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome - Zhang_2016_Lipids.Health.Dis_15_88
Author(s) : Zhang Y , Zhou J , Zheng W , Lan Z , Huang Z , Yang Q , Liu C , Gao R
Ref : Lipids Health Dis , 15 :88 , 2016
Abstract :
PubMedSearch : Zhang_2016_Lipids.Health.Dis_15_88
PubMedID: 27153815
Gene_locus related to this paper: human-LPL

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 : Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996 - Maruyama_2004_J.Atheroscler.Thromb_11_131
Author(s) : Maruyama T , Yamashita S , Matsuzawa Y , Bujo H , Takahashi K , Saito Y , Ishibashi S , Ohashi K , Shionoiri F , Gotoda T , Yamada N , Kita T
Ref : J Atheroscler Thromb , 11 :131 , 2004
Abstract :
PubMedSearch : Maruyama_2004_J.Atheroscler.Thromb_11_131
PubMedID: 15256764

Title : Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event - Henderson_1998_Am.J.Med.Genet_78_313
Author(s) : Henderson HE , Bijvoet SM , Mannens MA , Bruin T , Erkelens DW , Hayden MR , Kastelein JJ
Ref : American Journal of Medicine Genet , 78 :313 , 1998
Abstract :
PubMedSearch : Henderson_1998_Am.J.Med.Genet_78_313
PubMedID: 9714430

Title : Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries - Ma_1994_Hum.Mutat_3_52
Author(s) : Ma Y , Liu MS , Chitayat D , Bruin T , Beisiegel U , Benlian P , Foubert L , De Gennes JL , Funke H , Forsythe I , Blaichman S , Papanikolaou M , Erkelens DW , Kastelein J , Brunzell JD , Hayden MR
Ref : Hum Mutat , 3 :52 , 1994
Abstract :
PubMedSearch : Ma_1994_Hum.Mutat_3_52
PubMedID: 7906986

Title : Functional characterization of a chimeric lipase genetically engineered from human lipoprotein lipase and human hepatic lipase - Dichek_1993_J.Lipid.Res_34_1393
Author(s) : Dichek HL , Parrott C , Ronan R , Brunzell JD , Brewer HB, Jr. , Santamarina-Fojo S
Ref : J Lipid Res , 34 :1393 , 1993
Abstract :
PubMedSearch : Dichek_1993_J.Lipid.Res_34_1393
PubMedID: 8409770

Title : A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency - Ishimura-Oka_1992_J.Lipid.Res_33_745
Author(s) : Ishimura-Oka K , Semenkovich CF , Faustinella F , Goldberg IJ , Shachter N , Smith LC , Coleman T , Hide WA , Brown WV , Oka K , et al.
Ref : J Lipid Res , 33 :745 , 1992
Abstract :
PubMedSearch : Ishimura-Oka_1992_J.Lipid.Res_33_745
PubMedID: 1619366
Gene_locus related to this paper: human-LPL

Title : Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency - Gotoda_1991_J.Clin.Invest_88_1856
Author(s) : Gotoda T , Yamada N , Kawamura M , Kozaki K , Mori N , Ishibashi S , Shimano H , Takaku F , Yazaki Y , Furuichi Y , et al.
Ref : J Clinical Investigation , 88 :1856 , 1991
Abstract :
PubMedSearch : Gotoda_1991_J.Clin.Invest_88_1856
PubMedID: 1752947
Gene_locus related to this paper: human-LPL