Gene Locus : human-BCHE
Mode of mutation : Site directed mutagenesis
Disease :
Summary : Somatic mutation in tumors co appears with D70G natural mutation partially restores the activity Gnatt_1990_Cancer.Res_50_1983 Neville_1992_EMBO.J_11_1641 Soreq_1992_Trends.Biochem.Sci_17_353
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification : Silent variant || Natural mutation
Torpedo_number : 563
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.F561Y Phe561Tyr (p.F589Y Phe589Tyr in primary sequence with 28 amino-acids signal peptide) The F561Y could be considered as natural but was only found in clones of neuroblastomas and gliostomas, as such are somatic mutations not found in families as abnormal plasma cholinesterases
| Title : Intramolecular relationships in cholinesterases revealed by oocyte expression of site-directed and natural variants of human BCHE - Neville_1992_EMBO.J_11_1641 |
| Author(s) : Neville LF , Gnatt A , Loewenstein Y , Seidman S , Ehrlich G , Soreq H |
| Ref : EMBO Journal , 11 :1641 , 1992 |
| Abstract : Neville_1992_EMBO.J_11_1641 |
| ESTHER : Neville_1992_EMBO.J_11_1641 |
| PubMedSearch : Neville_1992_EMBO.J_11_1641 |
| PubMedID: 1373381 |
| Title : Excavations into the active-site gorge of cholinesterases. - Soreq_1992_Trends.Biochem.Sci_17_353 |
| Author(s) : Soreq H , Gnatt A , Loewenstein Y , Neville LF |
| Ref : Trends in Biochemical Sciences , 17 :353 , 1992 |
| Abstract : Soreq_1992_Trends.Biochem.Sci_17_353 |
| ESTHER : Soreq_1992_Trends.Biochem.Sci_17_353 |
| PubMedSearch : Soreq_1992_Trends.Biochem.Sci_17_353 |
| PubMedID: 1412713 |
| Title : Expression of alternatively terminated unusual human butyrylcholinesterase messenger RNA transcripts, mapping to chromosome 3q26-ter, in nervous system tumors - Gnatt_1990_Cancer.Res_50_1983 |
| Author(s) : Gnatt A , Prody CA , Zamir R , Lieman-Hurwitz J , Zakut H , Soreq H |
| Ref : Cancer Research , 50 :1983 , 1990 |
| Abstract : Gnatt_1990_Cancer.Res_50_1983 |
| ESTHER : Gnatt_1990_Cancer.Res_50_1983 |
| PubMedSearch : Gnatt_1990_Cancer.Res_50_1983 |
| PubMedID: 2317787 |