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.His210Gln H210Q CAC->CAG exon 5 (His183Gln H183Q in the mature protein which do not count signal peptide)
| Title : Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy - Mailly_1997_Hum.Mutat_10_465 |
| Author(s) : Mailly F , Palmen J , Muller DP , Gibbs T , Lloyd J , Brunzell J , Durrington P , Mitropoulos K , Betteridge J , Watts G , Lithell H , Angelico F , Humphries SE , Talmud PJ |
| Ref : Hum Mutat , 10 :465 , 1997 |
| Abstract : Mailly_1997_Hum.Mutat_10_465 |
| ESTHER : Mailly_1997_Hum.Mutat_10_465 |
| PubMedSearch : Mailly_1997_Hum.Mutat_10_465 |
| PubMedID: 9401010 |
| Title : A novel amino acid substitution (His183-->\;Gln) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state - Tenkanen_1994_J.Lipid.Res_35_220 |
| Author(s) : Tenkanen H , Taskinen MR , Antikainen M , Ulmanen I , Kontula K , Ehnholm C |
| Ref : J Lipid Res , 35 :220 , 1994 |
| Abstract : Tenkanen_1994_J.Lipid.Res_35_220 |
| ESTHER : Tenkanen_1994_J.Lipid.Res_35_220 |
| PubMedSearch : Tenkanen_1994_J.Lipid.Res_35_220 |
| PubMedID: 8169525 |