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 :
p.R135Q Arg135Gln c.486G>A R159Q Arg159Gln with numbering including signal peptide.rs768017317
| Title : Two novel molecular defects in the LCAT gene are associated with fish eye disease - Kuivenhoven_1996_Arterioscler.Thromb.Vasc.Biol_16_294 |
| Author(s) : Kuivenhoven JA , Stalenhoef AF , Hill JS , Demacker PN , Errami A , Kastelein JJ , Pritchard PH |
| Ref : Arterioscler Thromb Vasc Biol , 16 :294 , 1996 |
| Abstract : |
| PubMedSearch : Kuivenhoven_1996_Arterioscler.Thromb.Vasc.Biol_16_294 |
| PubMedID: 8620346 |