Y329X_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.Y329X Tyr329Ter (Y302X Tyr302Ter in the mature protein which do not count signal peptide). in three homozygous patients rs118204081

References (3)

Title : Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis - Heath_2024_JIMD.Rep_65_239
Author(s) : Heath O , Allender B , Smith J , Savva E , Spencer L , Bannister EG , Brown NJ , Evans MS , Kiss S , Rozen TH , Yaplito-Lee J
Ref : JIMD Rep , 65 :239 , 2024
Abstract :
PubMedSearch : Heath_2024_JIMD.Rep_65_239
PubMedID: 38974610
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 : Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)) - Bertolini_2000_Clin.Genet_57_140
Author(s) : Bertolini S , Simone ML , Pes GM , Ghisellini M , Rolleri M , Bellocchio A , Elicio N , Masturzo P , Calandra S
Ref : Clin Genet , 57 :140 , 2000
Abstract :
PubMedSearch : Bertolini_2000_Clin.Genet_57_140
PubMedID: 10735636
Gene_locus related to this paper: human-LPL