R270C_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.R270C Arg270Cys (R243C Arg243Cys in the mature protein which do not count signal peptide) rc118204077 Cryo-EM structure of the R243C mutant of human Prolyl Endopeptidase-Like (PREPL) protein involved in Congenital myasthenic syndrome-22 (CMS22) Theodoropoulou, A.,Cavani, E.,Antanasijevic, A.,Marcaida, M.J.,Dal Peraro, M. (8RFB)

References (6)

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 : Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency - Martin-Campos_2014_Clin.Chim.Acta_429_61
Author(s) : Martin-Campos JM , Julve J , Roig R , Martinez S , Errico TL , Martinez-Couselo S , Escola-Gil JC , Mendez-Gonzalez J , Blanco-Vaca F
Ref : Clinica Chimica Acta , 429 :61 , 2014
Abstract :
PubMedSearch : Martin-Campos_2014_Clin.Chim.Acta_429_61
PubMedID: 24291057
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 : Assessment of French patients with LPL deficiency for French Canadian mutations - Foubert_1997_J.Med.Genet_34_672
Author(s) : Foubert L , De Gennes JL , Lagarde JP , Ehrenborg E , Raisonnier A , Girardet JP , Hayden MR , Benlian P
Ref : Journal of Medical Genetics , 34 :672 , 1997
Abstract :
PubMedSearch : Foubert_1997_J.Med.Genet_34_672
PubMedID: 9279761

Title : Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene - Benlian_1996_N.Engl.J.Med_335_848
Author(s) : Benlian P , De Gennes JL , Foubert L , Zhang H , Gagne SE , Hayden M
Ref : N Engl J Med , 335 :848 , 1996
Abstract :
PubMedSearch : Benlian_1996_N.Engl.J.Med_335_848
PubMedID: 8778602
Gene_locus related to this paper: human-LPL

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