Gene Locus : human-LCAT
Mode of mutation : Natural mutant
Disease : Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED)
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 :
c.694T>A, S232T with numbering including signal peptide
| Title : Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men - Talmud_2002_Ann.Hum.Genet_66_111 |
| Author(s) : Talmud PJ , Hawe E , Robertson K , Miller GJ , Miller NE , Humphries SE |
| Ref : Ann Hum Genet , 66 :111 , 2002 |
| Abstract : |
| PubMedSearch : Talmud_2002_Ann.Hum.Genet_66_111 |
| PubMedID: 12174215 |