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.R65X Arg65Ter c.193C>T Compound heterozygote for a G-->A transition at position -1 of the exon 8 splice donor site (c.894 G > A, E8SJM), resulting in skipping of the complete exon 8 S275_Q298del, and for a C-->T substitution at position 233 (exon 3), which introduces a premature in-frame termination codon. R44X Arg44Ter in the sequence of the mature protein.
| Title : Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease - Lohse_2000_J.Lipid.Res_41_23 |
| Author(s) : Lohse P , Maas S , Elleder M , Kirk JM , Besley GT , Seidel D |
| Ref : J Lipid Res , 41 :23 , 2000 |
| Abstract : Lohse_2000_J.Lipid.Res_41_23 |
| ESTHER : Lohse_2000_J.Lipid.Res_41_23 |
| PubMedSearch : Lohse_2000_J.Lipid.Res_41_23 |
| PubMedID: 10627498 |
| Gene_locus related to this paper: human-LIPA |
| 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 : A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease - Redonnet-Vernhet_1998_Hum.Mutat_11_335 |
| Author(s) : Redonnet-Vernhet I , Chatelut M , Salvayre R , Levade T |
| Ref : Hum Mutat , 11 :335 , 1998 |
| Abstract : Redonnet-Vernhet_1998_Hum.Mutat_11_335 |
| ESTHER : Redonnet-Vernhet_1998_Hum.Mutat_11_335 |
| PubMedSearch : Redonnet-Vernhet_1998_Hum.Mutat_11_335 |
| PubMedID: 9554751 |
| Gene_locus related to this paper: human-LIPA |