Gene Locus : human-BCHE
Mode of mutation : Site directed mutagenesis
Disease :
Summary : Dibucaine inhibition, Succinylcholine hydrolysis test of cooperativity with D70G limited reduction activity Neville_1992_EMBO.J_11_1641
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification : Succinylcholine hydrolysis || Dibucaine inhibition
Torpedo_number : 427
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.S425P Asp425Pro (p.S453P Asp453Pro in primary sequence with 28 amino-acids signal peptide) The S425P 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 : |
| PubMedSearch : Neville_1992_EMBO.J_11_1641 |
| PubMedID: 1373381 |
| 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 : |
| PubMedSearch : Gnatt_1990_Cancer.Res_50_1983 |
| PubMedID: 2317787 |