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.[(Q298X, S275_Q298del)] r.892C>T, position -3 of the exon 8 splice donor site. A C-->T transition leads to a nonsense codon and to a premature termination at amino acid 277. Due to this mutation, a shorter mRNA was also generated that lacked exon 8 and was deficient of the nonsense codon. The protein synthesis proceeded to the natural stop codon, but the enzyme generated had an internal deletion of 24 amino acids (275-298) and was also inactive. Q277X, S254_Q277del in the mature protein
| Title : A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred - Ries_1996_J.Lipid.Res_37_1761 |
| Author(s) : Ries S , Aslanidis C , Fehringer P , Carel JC , Gendrel D , Schmitz G |
| Ref : J Lipid Res , 37 :1761 , 1996 |
| Abstract : Ries_1996_J.Lipid.Res_37_1761 |
| ESTHER : Ries_1996_J.Lipid.Res_37_1761 |
| PubMedSearch : Ries_1996_J.Lipid.Res_37_1761 |
| PubMedID: 8864960 |
| Gene_locus related to this paper: human-LIPA |