E313G_human-ACHE

General

Gene Locus : human-ACHE

Mode of mutation : Natural mutant

Disease :

Summary : Natural mutation ACHE:c.1031A>G snp ss23142123 Hasin_2004_Hum.Mutat_24_408

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification : snp Natural mutation

Torpedo_number : 306

Kinetic Parameter : No kinetic parameter

News : OCTOBER-21-2004

Comment :
p.E313G Glu313Gly (p.E344G Glu344Gly in primary sequence with 31 amino-acids signal peptide) Genotyping of 48 unrelated individuals from each of four populations could not be performed (Hasin et al 2004) rs17228588

References (1)

Title : A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase gene - Hasin_2004_Hum.Mutat_24_408
Author(s) : Hasin Y , Avidan N , Bercovich D , Korczyn A , Silman I , Beckmann JS , Sussman JL
Ref : Hum Mutat , 24 :408 , 2004
Abstract :
PubMedSearch : Hasin_2004_Hum.Mutat_24_408
PubMedID: 15459952