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 :
S199fsX7 Ser199fsTer7 (S172fsX7 Ser172fsTer7 in the mature protein without signal peptide Deletion of the second nucleotide of codon 172.) Found in an heterozygote patient
| Title : Combination of circulating antilipoprotein lipase (Anti-LPL) antibody and heterozygous S172 fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia - Pruneta-Deloche_2005_J.Clin.Endocrinol.Metab_90_3995 |
| Author(s) : Pruneta-Deloche V , Marcais C , Perrot L , Sassolas A , Delay M , Estour B , Lagarde M , Moulin P |
| Ref : J Clinical Endocrinology Metab , 90 :3995 , 2005 |
| Abstract : |
| PubMedSearch : Pruneta-Deloche_2005_J.Clin.Endocrinol.Metab_90_3995 |
| PubMedID: 15840743 |