L574SfsX2_human-BCHE

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Natural mutant Probably no effect Parmo-Folloni_2008_Chem.Biol.Interact_175_135

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis

Modification : Natural mutant

Torpedo_number : 575

Kinetic Parameter : No kinetic parameter

News : JUNE-18-2008

Comment :
p.L574SfsX2 Leu574SfsX2 (p.L602SfsX2 Leu602SfsX2 Thr343fsTer7 in the primary sequence with the 28 amino-acids signal peptide) A thymine deletion at nt 1719 leads to a change of the last amino acid from a L to S a modification of the stop codon to N and a new stop codon at codon 576 adds 2aa. Probably no effect