S425P_human-BCHE

General

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

References (2)

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