IVS4-22T>C_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 :
g.2327T>C (IVS4:T-22C). cause a null allele as the result of complete intron retention.

References (1)

Title : An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease) - Kuivenhoven_1996_J.Clin.Invest_98_358
Author(s) : Kuivenhoven JA , Weibusch H , Pritchard PH , Funke H , Benne R , Assmann G , Kastelein JJ
Ref : J Clinical Investigation , 98 :358 , 1996
Abstract : Kuivenhoven_1996_J.Clin.Invest_98_358
ESTHER : Kuivenhoven_1996_J.Clin.Invest_98_358
PubMedSearch : Kuivenhoven_1996_J.Clin.Invest_98_358
PubMedID: 8755645