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.N131D Asn131Asp c.463A>G, (N155D Asn155Asp with numbering including signal peptide) Exon 4 Phenotype (Fish Eye Disease)
| 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 |