K240fsX257_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 : c.794-801del Exon 6 Phenotype (LCATD)

References (1)

Title : Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype -
Author(s) : Park CW , Lim MH , Youn DY , Jung SE , Chung S , Ahn YS , Chang YS , Lee JH
Ref : Atherosclerosis , 206 :346 , 2009
PubMedID: 19329119