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Mutation Report for: P561R_human-ACHE

Name Class
P561R_human-ACHEGene_locushuman-ACHE
Torpedo_number553
AA_ChangeP561R
Mode_of_mutationNatural mutant
ModificationIn exon 5 Natural mutation
SummaryNatural 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
PaperBartels_1993_Am.J.Hum.Genet_52_928
Hasin_2004_Hum.Mutat_24_408
Valle_2011_J.Pharmacol.Exp.Ther_338_125
NewsOCTOBER-21-2004
Commentp.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)

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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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