G33R_human-LCAT

General

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 :
G57R c.169G>C with numbering including signal peptide

References (1)

Title : Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene -
Author(s) : Wiebusch H , Cullen P , Owen JS , Collins D , Sharp PS , Funke H , Assmann G
Ref : Hum Mol Genet , 4 :143 , 1995
PubMedID: 7711728
Gene_locus related to this paper: human-LCAT