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.Ser286Gly S286G AGT to GGT (Ser259Gly S259G in the mature protein as mentionned in the publication which do not count signal peptide)
| Title : Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. Online - Evans_1998_Hum.Mutat_12_217 |
| Author(s) : Evans D , Wendt D , Ahle S , Guerra A , Beisiegel U |
| Ref : Hum Mutat , 12 :217 , 1998 |
| Abstract : Evans_1998_Hum.Mutat_12_217 |
| ESTHER : Evans_1998_Hum.Mutat_12_217 |
| PubMedSearch : Evans_1998_Hum.Mutat_12_217 |
| PubMedID: 10660334 |
| Gene_locus related to this paper: human-LPL |