G26R_human-ACHE

General

Gene Locus : human-ACHE

Mode of mutation : Natural mutant

Disease :

Summary : Natural mutation ACHE:c.169A>G snp ss23142120 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 : 24

Kinetic Parameter : No kinetic parameter

News : OCTOBER-21-2004

Comment :
p.G26R Gly26Arg (p.G57R Gly57Arg in primary sequence with 31 amino-acids signal peptide) Genotyping of 48 unrelated individuals from each of four populations gave Q3 allele frequency of 1\% in Afro-Americans 2.1\% in Ashkenazi Jews not present in Sepharadic Jews and 2.1\% in Israeli Arabs (Hasin et al 2004) rs17234982

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
PubMedID: 15459952