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
| 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 : Kobayashi_1999_Clin.Chim.Acta_285_173 |
| ESTHER : Kobayashi_1999_Clin.Chim.Acta_285_173 |
| PubMedSearch : Kobayashi_1999_Clin.Chim.Acta_285_173 |
| PubMedID: 10481934 |
| Gene_locus related to this paper: human-LPL |