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 :
R140H Arg140His R164H Arg164His with numbering including signal peptide. c.491G>A found withc.283G>C
| Title : A novel pathogenic variant in LCAT causing FLD. A case report - Goni Ros_2022_Acta.Clin.Belg_77_970 |
| Author(s) : Goni Ros N , Gonzalez-Tarancon R , Sienes Bailo P , Salvador-Ruperez E , Puzo Bayod M , Puzo Foncillas J |
| Ref : Acta Clin Belg , 77 :970 , 2022 |
| Abstract : |
| PubMedSearch : Goni Ros_2022_Acta.Clin.Belg_77_970 |
| PubMedID: 34789074 |
| Gene_locus related to this paper: human-LCAT |
| Title : Compound heterozygosity (G71R\/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease - Horl_2006_Atherosclerosis_187_101 |
| Author(s) : Horl G , Kroisel PM , Wagner E , Tiran B , Petek E , Steyrer E |
| Ref : Atherosclerosis , 187 :101 , 2006 |
| Abstract : |
| PubMedSearch : Horl_2006_Atherosclerosis_187_101 |
| PubMedID: 16216249 |
| Title : A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency - Steyrer_1995_Hum.Genet_96_105 |
| Author(s) : Steyrer E , Haubenwallner S , Horl G , Giessauf W , Kostner GM , Zechner R |
| Ref : Hum Genet , 96 :105 , 1995 |
| Abstract : |
| PubMedSearch : Steyrer_1995_Hum.Genet_96_105 |
| PubMedID: 7607641 |