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Mutation Report for: H322N_human-ACHE

Mode of mutation|Natural mutant
Amino Acid change|H322N
Torpedo number|315
Comment|p.H322N p.His322Asn (p.H353N p.His353Asn in primary sequence with 31 amino-acids signal peptide) OMIM 112100 BLOOD GROUP--Yt SYSTEM; YT; CARTWRIGHT: The antibody defining the very common antigen Yt(a) was the cause of a cross-matching difficulty investigated by Eaton et al. (1956). It was presumed to be the result of previous transfusions.The Cartwright (Yt) red cell antigen was shown to reside on an unidentified phosphatidylinositol (PI)-linked protein (Telen et al.,1990)localization of the Yt antigens to the acetylcholinesterase molecule. Telen and Whitsett (1992) Spring et al. (1992) Assignment of the YT blood group locus to chromosome 7q was made by Zelinski et al (1991) The causal mutation H322N was discovered by Bartels et al. (1993). The frequency of the minor allele Y2 N322 is 4.1% in Britons (Giles et al. 1967), 4.2% in Afro-Americans (Wurzel and Haesler 1968) 5.3 in canadians (Lewis et al. 1987). Hasin et al 2004 found 1% in Afro-Americans, 5.2 in Ashkenazi Jews, 9.4 % in Sepharadic Jews and 8.3% in Israeli Arabs. His322Asn (p.H353N His353Asn) is among the protein-altering variants associated with body mass index
Kinetic parameters|none

    Title: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
    Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T, Giri A and Loos RJF <390 more author(s)>
    Ref: Nat Genet, 50:26, 2018 : PubMed


    Title: A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase gene
    Hasin Y, Avidan N, Bercovich D, Korczyn A, Silman I, Beckmann JS, Sussman JL
    Ref: Hum Mutat, 24:408, 2004 : PubMed


    Title: Population diversity and distinct haplotype frequencies associated with ACHE and BCHE genes of Israeli Jews from trans-Caucasian Georgia and from Europe
    Ehrlich G, Ginzberg D, Loewenstein Y, Glick D, Kerem B, Ben-Ari S, Zakut H, Soreq H
    Ref: Genomics, 22:288, 1994 : PubMed


    Title: Mutation His322Asn in human acetylcholinesterase does not alter electrophoretic and catalytic properties of the erythrocyte enzyme
    Masson P, Froment MT, Sorenson RC, Bartels CF, Lockridge O
    Ref: Blood, 83:3003, 1994 : PubMed


    Title: Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism
    Bartels CF, Zelinski T, Lockridge O
    Ref: American Journal of Human Genetics, 52:928, 1993 : PubMed


    Title: Evidence that the antigens of the Yt blood group system are located on human erythrocyte acetylcholinesterase
    Spring FA, Gardner B, Anstee DJ
    Ref: Blood, 80:2136, 1992 : PubMed


    Title: Assignment of the YT blood group locus to chromosome 7q
    Zelinski T, White L, Coghlan G, Philipps S
    Ref: Genomics, 11:165, 1991 : PubMed


    Title: Evidence that several high-frequency human blood group antigens reside on phosphatidylinositol-linked erythrocyte membrane proteins
    Telen MJ, Rosse WF, Parker CJ, Moulds MK, Moulds JJ
    Ref: Blood, 75:1404, 1990 : PubMed


    Title: The Yt blood group system (ISBT No. 011). Genetic studies
    Lewis M, Kaita H, Philipps S, McAlpine PJ, Wong P, Giblett ER, Anderson J
    Ref: Vox Sang, 53:52, 1987 : PubMed


    Title: Another example of anti-Ytb
    Wurzel HA, Haesler W, Jr.
    Ref: Vox Sang, 14:460, 1968 : PubMed


    Title: The Yt blood groups in American negroes
    Wurzel HA, Haesler WE
    Ref: Vox Sang, 15:304, 1968 : PubMed


    Title: Studies on the Yt blood group system
    Giles CM, Metaxas-Buhler M, Romanski Y, Metaxas MN
    Ref: Vox Sang, 13:171, 1967 : PubMed


    Title: A new antibody, anti-Yta, characterizing a blood-group antigen of high incidence
    Eaton BR, Morton JA, Pickles MM, White KE
    Ref: Br J Haematol, 2:333, 1956 : PubMed


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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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