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.V124FfsX3 Val124PhefsTer3 (V113FfsX3 Val113PhefsTer3 in mature proteine) A compound heterozygous for and a 2-bp deletion in exon 4 435\/436 (TC) or 437\/438 (TC) The two first amino acids are not changed (Leu CTC Ser TCA replaced by Leu CTC Ser AGT) (and an 8-bp deletion in exon 3) These frameshift mutations lead to truncation at amino acid positions 45(24) and 127(116) Ex4_2del_116X
| Title : Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease - Lohse_1999_J.Lipid.Res_40_221 |
| Author(s) : Lohse P , Maas S , Sewell AC , van Diggelen OP , Seidel D |
| Ref : J Lipid Res , 40 :221 , 1999 |
| Abstract : Lohse_1999_J.Lipid.Res_40_221 |
| ESTHER : Lohse_1999_J.Lipid.Res_40_221 |
| PubMedSearch : Lohse_1999_J.Lipid.Res_40_221 |
| PubMedID: 9925650 |
| Gene_locus related to this paper: human-LIPA |