S208T_human-LCAT

General

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

References (2)

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

Title : A common lecithin: cholesterol acyltransferase gene variant (Ser208-->Thr) -
Author(s) : Stocks J , Cooke CJ , Miller NE
Ref : Atherosclerosis , 149 :219 , 2000
PubMedID: 10799014