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
| 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 : Anderson_1999_Mol.Genet.Metab_68_333 |
| ESTHER : Anderson_1999_Mol.Genet.Metab_68_333 |
| 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 : Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718 |
| ESTHER : Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718 |
| PubMedSearch : Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718 |
| PubMedID: 8146180 |
| Gene_locus related to this paper: human-LIPA |