T523X_human-BCHE

General

Gene Locus : human-BCHE

Mode of mutation : Site directed mutagenesis

Disease :

Summary : Minimal C-term determination gives inactive enzyme retained in the cell Blong_1997_Biochem.J_327_747

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification : Minimal C-term determination || Truncated

Torpedo_number : 525

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.T523X Thr523Ter (p.T551X Thr551Ter in primary sequence with 28 amino-acids signal peptide) Minimal C-term determination\;gives inactive enzyme retained in the cell

References (1)

Title : Tetramerization domain of human butyrylcholinesterase is at the C- terminus - Blong_1997_Biochem.J_327_747
Author(s) : Blong RM , Bedows E , Lockridge O
Ref : Biochemical Journal , 327 :747 , 1997
Abstract :
PubMedSearch : Blong_1997_Biochem.J_327_747
PubMedID: 9581552