Gene Locus : human-ACHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation unrelated to YT, in exon 5 in peptide eliminated by glypiation, ACHE:c.1775C>G snp rs1799806 ss23142127, ACHE:C\/g Pro561Arg snp rs1799806 Bartels_1993_Am.J.Hum.Genet_52_928 Hasin_2004_Hum.Mutat_24_408 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 : In exon 5 Natural mutation
Torpedo_number : 553
Kinetic Parameter : No kinetic parameter
News : OCTOBER-21-2004
Comment :
p.P561R Pro561Arg (p.P592R Pro592Arg in primary sequence with 31 amino-acids signal peptide) Genotyping of 48 unrelated individuals from each of four populations gave R561 allele frequency of 11.5\% in Afro-Americans 39.5\% in Ashkenazi Jews 33.3\% in Sepharadic Jews and 33.3\% in Israeli Arabs (Hasin et al 2004), Pro561Arg mature protein Pro592Arg with signal peptide (Valle et al. 2011)
| 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 : |
| 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 : |
| PubMedSearch : Hasin_2004_Hum.Mutat_24_408 |
| PubMedID: 15459952 |
| Title : Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism - Bartels_1993_Am.J.Hum.Genet_52_928 |
| Author(s) : Bartels CF , Zelinski T , Lockridge O |
| Ref : American Journal of Human Genetics , 52 :928 , 1993 |
| Abstract : |
| PubMedSearch : Bartels_1993_Am.J.Hum.Genet_52_928 |
| PubMedID: 8488842 |