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.T123I Thr123Ile c.440C>T T147I Thr147Ile with numbering including signal peptide. In Winder et al double heterozygote with an other undefined mutation. rs121908050
| Title : A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression - Winder_1999_J.Clin.Pathol_52_228 |
| Author(s) : Winder AF , Owen JS , Pritchard PH , Lloyd-Jones D , Vallance DT , White P , Wray R |
| Ref : Journal of Clinical Pathology , 52 :228 , 1999 |
| Abstract : Winder_1999_J.Clin.Pathol_52_228 |
| ESTHER : Winder_1999_J.Clin.Pathol_52_228 |
| PubMedSearch : Winder_1999_J.Clin.Pathol_52_228 |
| PubMedID: 10450185 |
| Title : A unique genetic and biochemical presentation of fish-eye disease - Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| Author(s) : Kuivenhoven JA , van Voorst tot Voorst EJ , Wiebusch H , Marcovina SM , Funke H , Assmann G , Pritchard PH , Kastelein JJ |
| Ref : J Clinical Investigation , 96 :2783 , 1995 |
| Abstract : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| ESTHER : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| PubMedSearch : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| PubMedID: 8675648 |
| 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 |
| Title : A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity - Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| Author(s) : Funke H , von Eckardstein A , Pritchard PH , Albers JJ , Kastelein JJ , Droste C , Assmann G |
| Ref : Proc Natl Acad Sci U S A , 88 :4855 , 1991 |
| Abstract : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| ESTHER : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| PubMedSearch : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| PubMedID: 2052566 |