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)
| 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 : 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 : 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 : 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 |