Gene Locus : human-ACHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation ACHE:c.101G>A snp ss23142119 Hasin_2004_Hum.Mutat_24_408 || Natural mutation ACHE:G\/A Arg3Gln snp rs17881553 Valle_2011_J.Pharmacol.Exp.Ther_338_125
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification : snp Natural mutation
Torpedo_number : 1
Kinetic Parameter : No kinetic parameter
News : OCTOBER-21-2004
Comment : p.R3Q Arg3Gln (p.R34Q Arg34Gln in primary sequence with 31 amino-acids signal peptide) Genotyping of 48 unrelated individuals from each of four populations gave Q3 allele frequency of 5.2\% in Afro-Americans not present in Ashkenazi Jews not present in Sepharadic Jews and not present in Israeli Arabs (Hasin et al 2004) R34Q Arg34Gln with signal peptide rs17881553
| Title : Naturally occurring variations in the human cholinesterase genes: heritability and association with cardiovascular and metabolic traits - Valle_2011_J.Pharmacol.Exp.Ther_338_125 |
| Author(s) : Valle AM , Radic Z , Rana BK , Mahboubi V , Wessel J , Shih PA , Rao F , O'Connor DT , Taylor P |
| Ref : Journal of Pharmacology & Experimental Therapeutics , 338 :125 , 2011 |
| Abstract : Valle_2011_J.Pharmacol.Exp.Ther_338_125 |
| ESTHER : Valle_2011_J.Pharmacol.Exp.Ther_338_125 |
| PubMedSearch : Valle_2011_J.Pharmacol.Exp.Ther_338_125 |
| PubMedID: 21493754 |
| 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 : Hasin_2004_Hum.Mutat_24_408 |
| ESTHER : Hasin_2004_Hum.Mutat_24_408 |
| PubMedSearch : Hasin_2004_Hum.Mutat_24_408 |
| PubMedID: 15459952 |