A199CfsX12_human-LIPA

General

Gene Locus : human-LIPA

Mode of mutation : Natural mutant

Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD

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.A199CfsX12 p.(ALa199CfsTer12), c.594_595insT, insertion of a T residue after position 634 resulting in the appearance of an in-frame translation stop signal 13 codons downstream. A178C Ala178Cys in mature protein

References (2)

Title : Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease - Anderson_1999_Mol.Genet.Metab_68_333
Author(s) : Anderson RA , Bryson GM , Parks JS
Ref : Mol Genet Metab , 68 :333 , 1999
Abstract :
PubMedSearch : Anderson_1999_Mol.Genet.Metab_68_333
PubMedID: 10562460
Gene_locus related to this paper: human-LIPA

Title : Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease - Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718
Author(s) : Anderson RA , Byrum RS , Coates PM , Sando GN
Ref : Proceedings of the National Academy of Sciences of the United States of America , 91 :2718 , 1994
Abstract :
PubMedSearch : Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718
PubMedID: 8146180
Gene_locus related to this paper: human-LIPA