A248fsX3_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.A248fs p. Ala248fs, LPL-Arita: deletion of 1 base, G at nucleotide position 916 in exon 5 (the first position of Ala221 (A221fs Ala221fs in the mature protein)), which led to premature termination at codon 251 (224) by a frameshift found also in compound heterozygotes together with W409X(382) or Y88X(382)

References (6)

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 : Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis - Kawashiri_2005_J.Clin.Endocrinol.Metab_90_6541
Author(s) : Kawashiri MA , Higashikata T , Mizuno M , Takata M , Katsuda S , Miwa K , Nozue T , Nohara A , Inazu A , Kobayashi J , Koizumi J , Mabuchi H
Ref : J Clinical Endocrinology Metab , 90 :6541 , 2005
Abstract :
PubMedSearch : Kawashiri_2005_J.Clin.Endocrinol.Metab_90_6541
PubMedID: 16174715
Gene_locus related to this paper: human-LPL

Title : Detection of a new compound heterozygote (del G916\/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients -
Author(s) : Okubo M , Inoue S , Horinishi A , Ogihara T , Kaneko K , Gotoda T , Yamada N , Murase T
Ref : Atherosclerosis , 144 :443 , 1999
PubMedID: 10407506

Title : Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript - Takagi_1992_J.Clin.Invest_89_581
Author(s) : Takagi A , Ikeda Y , Tsutsumi Z , Shoji T , Yamamoto A
Ref : J Clinical Investigation , 89 :581 , 1992
Abstract :
PubMedSearch : Takagi_1992_J.Clin.Invest_89_581
PubMedID: 1737848

Title : A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency - Gotoda_1992_Biochim.Biophys.Acta_1138_353
Author(s) : Gotoda T , Yamada N , Murase T , Miyake S , Murakami R , Kawamura M , Kozaki K , Mori N , Shimano H , Shimada M , Yazaki Y
Ref : Biochimica & Biophysica Acta , 1138 :353 , 1992
Abstract :
PubMedSearch : Gotoda_1992_Biochim.Biophys.Acta_1138_353
PubMedID: 1562620

Title : Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec - Bergeron_1992_Clin.Genet_41_206
Author(s) : Bergeron J , Normand T , Bharucha A , Ven Murthy MR , Julien P , Gagne C , Dionne C , De Braekeleer M , Brun D , Hayden MR , Luplen PJ
Ref : Clin Genet , 41 :206 , 1992
Abstract :
PubMedSearch : Bergeron_1992_Clin.Genet_41_206
PubMedID: 1576758
Gene_locus related to this paper: human-LPL