N281MfsX23_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.N281MfsX23 (c.840delG).Asn281MetfsTer23 in exon 6 leading to a premature termination codon (p.N254MfsX23 Asn254MetfsTer23 in mature protein). Found in a 23-day-old male patient compound heterozygote with a mutation deleting totally LPL

References (2)

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 : Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion - Pugni_2014_JIMD.Rep_13_59
Author(s) : Pugni L , Riva E , Pietrasanta C , Rabacchi C , Bertolini S , Pederiva C , Mosca F , Calandra S
Ref : JIMD Rep , 13 :59 , 2014
Abstract :
PubMedSearch : Pugni_2014_JIMD.Rep_13_59
PubMedID: 24142281