Gene Locus : human-ACHE
Mode of mutation : Natural mutant
Disease :
Summary : p.H322N His322Asn (p.H353N His353Asn in primary sequence with 31 amino-acids signal peptide) YT blood group antigen Natural mutation YT epitope YT2 allele always associated with P446P CCC->CCT polymorphism do not alter electrophoretic and catalytic properties of the erythrocyte enzyme (masson) YT2 allele rather low in Georgian Jews (7\%) always associated with P446P CCC->CCT polymorphism (Ehrlich)ACHE:c.1057C>A snp ss23142124 high but not full linkage with P446P CCC->CCT polymorphism (Hasin) Bartels_1993_Am.J.Hum.Genet_52_928 Masson_1994_Blood_83_3003 Hasin_2004_Hum.Mutat_24_408 rs1799805
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification : YT blood group antigen Natural mutation || Natural mutation
Torpedo_number : 315
Kinetic Parameter : No kinetic parameter
News : JANUARY-10-2018, OCTOBER-21-2004
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
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 |
Title : Mutation His322Asn in human acetylcholinesterase does not alter electrophoretic and catalytic properties of the erythrocyte enzyme - Masson_1994_Blood_83_3003 |
Author(s) : Masson P , Froment MT , Sorenson RC , Bartels CF , Lockridge O |
Ref : Blood , 83 :3003 , 1994 |
Abstract : Masson_1994_Blood_83_3003 |
ESTHER : Masson_1994_Blood_83_3003 |
PubMedSearch : Masson_1994_Blood_83_3003 |
PubMedID: 8180397 |
Title : Population diversity and distinct haplotype frequencies associated with ACHE and BCHE genes of Israeli Jews from trans-Caucasian Georgia and from Europe - Ehrlich_1994_Genomics_22_288 |
Author(s) : Ehrlich G , Ginzberg D , Loewenstein Y , Glick D , Kerem B , Ben-Ari S , Zakut H , Soreq H |
Ref : Genomics , 22 :288 , 1994 |
Abstract : Ehrlich_1994_Genomics_22_288 |
ESTHER : Ehrlich_1994_Genomics_22_288 |
PubMedSearch : Ehrlich_1994_Genomics_22_288 |
PubMedID: 7806214 |
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 : Bartels_1993_Am.J.Hum.Genet_52_928 |
ESTHER : Bartels_1993_Am.J.Hum.Genet_52_928 |
PubMedSearch : Bartels_1993_Am.J.Hum.Genet_52_928 |
PubMedID: 8488842 |
Title : Evidence that the antigens of the Yt blood group system are located on human erythrocyte acetylcholinesterase - Spring_1992_Blood_80_2136 |
Author(s) : Spring FA , Gardner B , Anstee DJ |
Ref : Blood , 80 :2136 , 1992 |
Abstract : Spring_1992_Blood_80_2136 |
ESTHER : Spring_1992_Blood_80_2136 |
PubMedSearch : Spring_1992_Blood_80_2136 |
PubMedID: 1391965 |
Title : Assignment of the YT blood group locus to chromosome 7q - Zelinski_1991_Genomics_11_165 |
Author(s) : Zelinski T , White L , Coghlan G , Philipps S |
Ref : Genomics , 11 :165 , 1991 |
Abstract : Zelinski_1991_Genomics_11_165 |
ESTHER : Zelinski_1991_Genomics_11_165 |
PubMedSearch : Zelinski_1991_Genomics_11_165 |
PubMedID: 1765374 |
Title : Evidence that several high-frequency human blood group antigens reside on phosphatidylinositol-linked erythrocyte membrane proteins - Telen_1990_Blood_75_1404 |
Author(s) : Telen MJ , Rosse WF , Parker CJ , Moulds MK , Moulds JJ |
Ref : Blood , 75 :1404 , 1990 |
Abstract : Telen_1990_Blood_75_1404 |
ESTHER : Telen_1990_Blood_75_1404 |
PubMedSearch : Telen_1990_Blood_75_1404 |
PubMedID: 2317557 |
Title : The Yt blood group system (ISBT No. 011). Genetic studies - Lewis_1987_Vox.Sang_53_52 |
Author(s) : Lewis M , Kaita H , Philipps S , McAlpine PJ , Wong P , Giblett ER , Anderson J |
Ref : Vox Sang , 53 :52 , 1987 |
Abstract : Lewis_1987_Vox.Sang_53_52 |
ESTHER : Lewis_1987_Vox.Sang_53_52 |
PubMedSearch : Lewis_1987_Vox.Sang_53_52 |
PubMedID: 3477904 |
Title : Another example of anti-Ytb - |
Author(s) : Wurzel HA , Haesler W, Jr. |
Ref : Vox Sang , 14 :460 , 1968 |
PubMedID: 5686856 |
Title : The Yt blood groups in American negroes - |
Author(s) : Wurzel HA , Haesler WE |
Ref : Vox Sang , 15 :304 , 1968 |
PubMedID: 5684530 |
Title : Studies on the Yt blood group system - |
Author(s) : Giles CM , Metaxas-Buhler M , Romanski Y , Metaxas MN |
Ref : Vox Sang , 13 :171 , 1967 |
PubMedID: 6035447 |
Title : A new antibody, anti-Yta, characterizing a blood-group antigen of high incidence - |
Author(s) : Eaton BR , Morton JA , Pickles MM , White KE |
Ref : Br J Haematol , 2 :333 , 1956 |
PubMedID: 13383099 |