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.1112C>T, T371M with numbering including signal peptide
| Title : Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met) - Klein_1992_J.Clin.Invest_89_499 |
| Author(s) : Klein HG , Lohse P , Pritchard PH , Bojanovski D , Schmidt H , Brewer HB, Jr. |
| Ref : J Clinical Investigation , 89 :499 , 1992 |
| Abstract : Klein_1992_J.Clin.Invest_89_499 |
| ESTHER : Klein_1992_J.Clin.Invest_89_499 |
| PubMedSearch : Klein_1992_J.Clin.Invest_89_499 |
| PubMedID: 1737840 |
| Gene_locus related to this paper: human-LCAT |