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H322N_human-ACHE

General

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

References (13)

Title : Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity - Turcot_2018_Nat.Genet_50_26
Author(s) : Turcot V , Lu Y , Highland HM , Schurmann C , Justice AE , Fine RS , Bradfield JP , Esko T , Giri A , Graff M , Guo X , Hendricks AE , Karaderi T , Lempradl A , Locke AE , Mahajan A , Marouli E , Sivapalaratnam S , Young KL , Alfred T , Feitosa MF , Masca NGD , Manning AK , Medina-Gomez C , Mudgal P , Ng MCY , Reiner AP , Vedantam S , Willems SM , Winkler TW , Abecasis G , Aben KK , Alam DS , Alharthi SE , Allison M , Amouyel P , Asselbergs FW , Auer PL , Balkau B , Bang LE , Barroso I , Bastarache L , Benn M , Bergmann S , Bielak LF , Bluher M , Boehnke M , Boeing H , Boerwinkle E , Boger CA , Bork-Jensen J , Bots ML , Bottinger EP , Bowden DW , Brandslund I , Breen G , Brilliant MH , Broer L , Brumat M , Burt AA , Butterworth AS , Campbell PT , Cappellani S , Carey DJ , Catamo E , Caulfield MJ , Chambers JC , Chasman DI , Chen YI , Chowdhury R , Christensen C , Chu AY , Cocca M , Collins FS , Cook JP , Corley J , Corominas Galbany J , Cox AJ , Crosslin DS , Cuellar-Partida G , D'Eustacchio A , Danesh J , Davies G , Bakker PIW , Groot MCH , Mutsert R , Deary IJ , Dedoussis G , Demerath EW , Heijer M , Hollander AI , Ruijter HM , Dennis JG , Denny JC , Angelantonio E , Drenos F , Du M , Dube MP , Dunning AM , Easton DF , Edwards TL , Ellinghaus D , Ellinor PT , Elliott P , Evangelou E , Farmaki AE , Farooqi IS , Faul JD , Fauser S , Feng S , Ferrannini E , Ferrieres J , Florez JC , Ford I , Fornage M , Franco OH , Franke A , Franks PW , Friedrich N , Frikke-Schmidt R , Galesloot TE , Gan W , Gandin I , Gasparini P , Gibson J , Giedraitis V , Gjesing AP , Gordon-Larsen P , Gorski M , Grabe HJ , Grant SFA , Grarup N , Griffiths HL , Grove ML , Gudnason V , Gustafsson S , Haessler J , Hakonarson H , Hammerschlag AR , Hansen T , Harris KM , Harris TB , Hattersley AT , Have CT , Hayward C , He L , Heard-Costa NL , Heath AC , Heid IM , Helgeland O , Hernesniemi J , Hewitt AW , Holmen OL , Hovingh GK , Howson JMM , Hu Y , Huang PL , Huffman JE , Ikram MA , Ingelsson E , Jackson AU , Jansson JH , Jarvik GP , Jensen GB , Jia Y , Johansson S , Jorgensen ME , Jorgensen T , Jukema JW , Kahali B , Kahn RS , Kahonen M , Kamstrup PR , Kanoni S , Kaprio J , Karaleftheri M , Kardia SLR , Karpe F , Kathiresan S , Kee F , Kiemeney LA , Kim E , Kitajima H , Komulainen P , Kooner JS , Kooperberg C , Korhonen T , Kovacs P , Kuivaniemi H , Kutalik Z , Kuulasmaa K , Kuusisto J , Laakso M , Lakka TA , Lamparter D , Lange EM , Lange LA , Langenberg C , Larson EB , Lee NR , Lehtimaki T , Lewis CE , Li H , Li J , Li-Gao R , Lin H , Lin KH , Lin LA , Lin X , Lind L , Lindstrom J , Linneberg A , Liu CT , Liu DJ , Liu Y , Lo KS , Lophatananon A , Lotery AJ , Loukola A , Luan J , Lubitz SA , Lyytikainen LP , Mannisto S , Marenne G , Mazul AL , McCarthy MI , McKean-Cowdin R , Medland SE , Meidtner K , Milani L , Mistry V , Mitchell P , Mohlke KL , Moilanen L , Moitry M , Montgomery GW , Mook-Kanamori DO , Moore C , Mori TA , Morris AD , Morris AP , Muller-Nurasyid M , Munroe PB , Nalls MA , Narisu N , Nelson CP , Neville M , Nielsen SF , Nikus K , Njolstad PR , Nordestgaard BG , Nyholt DR , O'Connel JR , O'Donoghue ML , Olde Loohuis LM , Ophoff RA , Owen KR , Packard CJ , Padmanabhan S , Palmer CNA , Palmer ND , Pasterkamp G , Patel AP , Pattie A , Pedersen O , Peissig PL , Peloso GM , Pennell CE , Perola M , Perry JA , Perry JRB , Pers TH , Person TN , Peters A , Petersen ERB , Peyser PA , Pirie A , Polasek O , Polderman TJ , Puolijoki H , Raitakari OT , Rasheed A , Rauramaa R , Reilly DF , Renstrom F , Rheinberger M , Ridker PM , Rioux JD , Rivas MA , Roberts DJ , Robertson NR , Robino A , Rolandsson O , Rudan I , Ruth KS , Saleheen D , Salomaa V , Samani NJ , Sapkota Y , Sattar N , Schoen RE , Schreiner PJ , Schulze MB , Scott RA , Segura-Lepe MP , Shah SH , Sheu WH , Sim X , Slater AJ , Small KS , Smith AV , Southam L , Spector TD , Speliotes EK , Starr JM , Stefansson K , Steinthorsdottir V , Stirrups KE , Strauch K , Stringham HM , Stumvoll M , Sun L , Surendran P , Swift AJ , Tada H , Tansey KE , Tardif JC , Taylor KD , Teumer A , Thompson DJ , Thorleifsson G , Thorsteinsdottir U , Thuesen BH , Tonjes A , Tromp G , Trompet S , Tsafantakis E , Tuomilehto J , Tybjaerg-Hansen A , Tyrer JP , Uher R , Uitterlinden AG , Uusitupa M , Laan SW , Duijn CM , Leeuwen N , van Setten J , Vanhala M , Varbo A , Varga TV , Varma R , Velez Edwards DR , Vermeulen SH , Veronesi G , Vestergaard H , Vitart V , Vogt TF , Volker U , Vuckovic D , Wagenknecht LE , Walker M , Wallentin L , Wang F , Wang CA , Wang S , Wang Y , Ware EB , Wareham NJ , Warren HR , Waterworth DM , Wessel J , White HD , Willer CJ , Wilson JG , Witte DR , Wood AR , Wu Y , Yaghootkar H , Yao J , Yao P , Yerges-Armstrong LM , Young R , Zeggini E , Zhan X , Zhang W , Zhao JH , Zhao W , Zhou W , Zondervan KT , Rotter JI , Pospisilik JA , Rivadeneira F , Borecki IB , Deloukas P , Frayling TM , Lettre G , North KE , Lindgren CM , Hirschhorn JN , Loos RJF
Ref : Nat Genet , 50 :26 , 2018
Abstract : Turcot_2018_Nat.Genet_50_26
ESTHER : Turcot_2018_Nat.Genet_50_26
PubMedSearch : Turcot_2018_Nat.Genet_50_26
PubMedID: 29273807

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