N318IfsX304_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.N318IfsX304 Asn318IlefsX304 (N291I Asn291IlefsX304 in the mature protein which do not count signal peptide) heterozygous one nucleotide deletion of A coding Asn 291, resulting in a premature termination of the LPL protein at amino acid residue 303. The other abnormality in the LPL gene of the proband was an amino acid residue 194 defect (Ile194-->Thr) I221T_human-LPL, which is known to cause a defective enzyme

References (1)

Title : A novel frameshift mutation in exon 6 (the site of Asn 291) of the lipoprotein lipase gene in type I hyperlipidemia - Kobayashi_1999_Clin.Chim.Acta_285_173
Author(s) : Kobayashi J , Nagashima I , Taira K , Hikita M , Tamura K , Bujo H , Morisaki N , Saito Y
Ref : Clinica Chimica Acta , 285 :173 , 1999
Abstract :
PubMedSearch : Kobayashi_1999_Clin.Chim.Acta_285_173
PubMedID: 10481934
Gene_locus related to this paper: human-LPL