N119S_human-LIPA

General

Gene Locus : human-LIPA

Mode of mutation : Natural mutant

Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD

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.N119S p.Asn119Ser c.356A>G CESD patient compound heterozygous for this missense mutation and for the LIPA exon 8 splice junction mutation, (N98S Asbn98Ser in the mature protein)

References (3)

Title : Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity - Vinje_2019_Hum.Mol.Genet_28_3043
Author(s) : Vinje T , Laerdahl JK , Bjune K , Leren TP , Strom TB
Ref : Hum Mol Genet , 28 :3043 , 2019
Abstract :
PubMedSearch : Vinje_2019_Hum.Mol.Genet_28_3043
PubMedID: 31131398
Gene_locus related to this paper: human-LIPA

Title : Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene - Vinje_2018_Mol.Genet.Metab_123_169
Author(s) : Vinje T , Wierod L , Leren TP , Strom TB
Ref : Mol Genet Metab , 123 :169 , 2018
Abstract :
PubMedSearch : Vinje_2018_Mol.Genet.Metab_123_169
PubMedID: 29196158
Gene_locus related to this paper: human-LIPA

Title : A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease - Hooper_2008_Clin.Chim.Acta_398_152
Author(s) : Hooper AJ , Tran HA , Formby MR , Burnett JR
Ref : Clinica Chimica Acta , 398 :152 , 2008
Abstract :
PubMedSearch : Hooper_2008_Clin.Chim.Acta_398_152
PubMedID: 18775687
Gene_locus related to this paper: human-LIPA