G30S_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 : p.G30S Gly30Ser c.160G>A. p.G54S Gly54Ser with numbering including signal peptide

References (1)

Title : Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene -

Author(s) : Owen JS , Wiebusch H , Cullen P , Watts GF , Lima VL , Funke H , Assmann G

Ref : Hum Mutat , 8 :79 , 1996

PubMedID: 8807342

G30S_human-LCAT

General

References (1)

1. Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene