Table 2.

List of genetic variation in ABO exons among the 154 haplotype sequences

PhenotypeAllele nameNucleotide change† ExonPredicted amino acid changeNo. of sequencesComments
A1 ABO∗A1.01    39 ISBT reference allele 
A2 ABO∗A2.01 c.467C>T; 7 p.Pro156Leu; 20  
  c.1061delC 7 p.Pro354Argfs∗23   
B ABO∗B.01 c.297A>G; 6  19  
  c.526C>G; 7 p.Arg176Gly;   
  c.657C>T; 7    
  c.703G>A; 7 p.Gly235Ser;   
  c.796C>A; 7 p.Leu266Met;   
  c.803G>C; 7 p.Gly268Ala   
  c.930G>A 7    
O ABO∗O.01.01 c.261delG 6 p.Thr88Profs∗31 25  
O ABO∗O.01.26 c.261delG 6 p.Thr88Profs∗31 2 ABO∗O.01.01 background with additional c.768C>A 
  c.768C>A 7    
O ABO∗O.01.02 c.106G>T; 3 p.Val36Phe; 22  
  c.188G>A; 4 p.Arg63His;   
  c.189C>T; 4    
  c.220C>T; 5 p.Pro74Ser;   
  c.261delG; 6 p.Thr88Profs∗31   
  c.297A>G; 6    
  c.646T>A; 7    
  c.681G>A; 7    
  c.771C>T; 7    
  c.829G>A 7    
O ABO∗O.01.67 c.103G>A; 3 p.Gly35Arg; 4 ABO∗O.01.02 background with additional c.103G>A 
  c.106G>T; 3 p.Val36Phe;   
  c.188G>A; 4 p.Arg63His;   
  c.189C>T; 4    
  c.220C>T; 5 p.Pro74Ser;   
  c.261delG; 6 p.Thr88Profs∗31   
  c.297A>G; 6    
  c.646T>A; 7    
  c.681G>A; 7    
  c.771C>T; 7    
  c.829G>A 7    
O ABO∗O.01.68 c.106G>T; 3 p.Val36Phe; 1 ABO∗O.01.02 background without c.220C>T 
  c.188G>A; 4 p.Arg63His;   
  c.189C>T; 4    
  c.261delG; 6 p.Thr88Profs∗31   
  c.297A>G; 6    
  c.646T>A; 7    
  c.681G>A; 7    
  c.771C>T; 7    
  c.829G>A 7    
O ABO∗O.01.75 c.106G>T; 3 p.Val36Phe; 2 ABO∗O.01.02 background with additional c.542G>A 
  c.188G>A; 4 p.Arg63His;   
  c.189C>T; 4    
  c.220C>T; 5 p.Pro74Ser;   
  c.261delG; 6 p.Thr88Profs∗31   
  c.297A>G; 6    
  c.542G>A; 7    
  c.646T>A; 7    
  c.681G>A; 7    
  c.771C>T; 7    
  c.829G>A 7    
O ABO∗O.02.01 c.53G>T; 2 p.Arg18Leu; 10  
  c.220C>T; 5 p.Pro74Ser;   
  c.297A>G; 6    
  c.526C>G; 7 p.Arg176Gly;   
  c.802G>A 7 p.Gly268Arg   
O ABO∗O.02.02 c.53G>T; 2 p.Arg18Leu; 4 ABO∗O.02 background with additional c.649C>T and c.689G>A 
  c.220C>T; 5 p.Pro74Ser;   
  c.297A>G; 6    
  c.526C>G; 7 p.Arg176Gly;   
  c.649C>T; 7 p.Arg217Cys;   
  c.689G>A; 7 p.Gly230Asp;   
  c.802G>A 7 p.Gly268Arg   
O ABO∗O.02.03 c.53G>T; 2 p.Arg18Leu; 1 ABO∗O.02 background with additional c.689G>A 
  c.220C>T; 5 p.Pro74Ser;   
  c.297A>G; 6    
  c.526C>G; 7 p.Arg176Gly;   
  c.689G>A; 7 p.Gly230Asp;   
  c.802G>A 7 p.Gly268Arg   
O ABO∗O.02.04 c.53G>T; 2 p.Arg18Leu; 1 ABO∗O.02 background with additional c.488C>T 
  c.220C>T; 5 p.Pro74Ser;   
  c.297A>G; 6    
  c.488C>T; 7 p.Thr163Met;   
  c.526C>G; 7 p.Arg176Gly;   
  c.802G>A 7 p.Gly268Arg   
New alleles not listed in the ABO (ISBT 001) blood group allele table (version 1.1 171023) 
A2 ABO∗A2.01(c.1032G>A) c.467C>T; 7 p.Pro156Leu; 1 ABO∗A2.01 background with additional c.1032G>A 
  c.1032G>A; 7    
  c.1061delC; 7 p.Pro354Argfs∗23   
B ABO∗B.01(c.122G>A) c.122G>A; 3 p.Ser41Asn 1 ABO∗B.01 background with additional c.122G>A 
  c.297A>G; 6    
  c.526C>G; 7 p.Arg176Gly;   
  c.657C>T; 7    
  c.703G>A; 7 p.Gly235Ser;   
  c.796C>A; 7 p.Leu266Met;   
  c.803G>C; 7 p.Gly268Ala   
  c.930G>A 7    
O ABO∗O.01.02(c.6C>T) c.6C>T; 1  1 ABO∗O.01.02 background with additional c.6C>T 
  c.106G>T; 3 p.Val36Phe;   
  c.188G>A; 4 p.Arg63His;   
  c.189C>T; 4    
  c.220C>T; 5 p.Pro74Ser;   
  c.261delG; 6 p.Thr88Profs∗31   
  c.297A>G; 6    
  c.646T>A; 7    
  c.681G>A; 7    
  c.771C>T; 7    
  c.829G>A 7    
O ABO∗O.01.68(c.595C>T) c.106G>T; 3 p.Val36Phe; 1 ABO∗O.01.68 background with additional c.595C>T 
  c.188G>A; 4 p.Arg63His;   
  c.189C>T; 4    
  c.261delG; 6 p.Thr88Profs∗31   
  c.297A>G; 6    
  c.595C>T; 7    
  c.646T>A; 7    
  c.681G>A; 7    
  c.771C>T; 7    
  c.829G>A 7    
PhenotypeAllele nameNucleotide change† ExonPredicted amino acid changeNo. of sequencesComments
A1 ABO∗A1.01    39 ISBT reference allele 
A2 ABO∗A2.01 c.467C>T; 7 p.Pro156Leu; 20  
  c.1061delC 7 p.Pro354Argfs∗23   
B ABO∗B.01 c.297A>G; 6  19  
  c.526C>G; 7 p.Arg176Gly;   
  c.657C>T; 7    
  c.703G>A; 7 p.Gly235Ser;   
  c.796C>A; 7 p.Leu266Met;   
  c.803G>C; 7 p.Gly268Ala   
  c.930G>A 7    
O ABO∗O.01.01 c.261delG 6 p.Thr88Profs∗31 25  
O ABO∗O.01.26 c.261delG 6 p.Thr88Profs∗31 2 ABO∗O.01.01 background with additional c.768C>A 
  c.768C>A 7    
O ABO∗O.01.02 c.106G>T; 3 p.Val36Phe; 22  
  c.188G>A; 4 p.Arg63His;   
  c.189C>T; 4    
  c.220C>T; 5 p.Pro74Ser;   
  c.261delG; 6 p.Thr88Profs∗31   
  c.297A>G; 6    
  c.646T>A; 7    
  c.681G>A; 7    
  c.771C>T; 7    
  c.829G>A 7    
O ABO∗O.01.67 c.103G>A; 3 p.Gly35Arg; 4 ABO∗O.01.02 background with additional c.103G>A 
  c.106G>T; 3 p.Val36Phe;   
  c.188G>A; 4 p.Arg63His;   
  c.189C>T; 4    
  c.220C>T; 5 p.Pro74Ser;   
  c.261delG; 6 p.Thr88Profs∗31   
  c.297A>G; 6    
  c.646T>A; 7    
  c.681G>A; 7    
  c.771C>T; 7    
  c.829G>A 7    
O ABO∗O.01.68 c.106G>T; 3 p.Val36Phe; 1 ABO∗O.01.02 background without c.220C>T 
  c.188G>A; 4 p.Arg63His;   
  c.189C>T; 4    
  c.261delG; 6 p.Thr88Profs∗31   
  c.297A>G; 6    
  c.646T>A; 7    
  c.681G>A; 7    
  c.771C>T; 7    
  c.829G>A 7    
O ABO∗O.01.75 c.106G>T; 3 p.Val36Phe; 2 ABO∗O.01.02 background with additional c.542G>A 
  c.188G>A; 4 p.Arg63His;   
  c.189C>T; 4    
  c.220C>T; 5 p.Pro74Ser;   
  c.261delG; 6 p.Thr88Profs∗31   
  c.297A>G; 6    
  c.542G>A; 7    
  c.646T>A; 7    
  c.681G>A; 7    
  c.771C>T; 7    
  c.829G>A 7    
O ABO∗O.02.01 c.53G>T; 2 p.Arg18Leu; 10  
  c.220C>T; 5 p.Pro74Ser;   
  c.297A>G; 6    
  c.526C>G; 7 p.Arg176Gly;   
  c.802G>A 7 p.Gly268Arg   
O ABO∗O.02.02 c.53G>T; 2 p.Arg18Leu; 4 ABO∗O.02 background with additional c.649C>T and c.689G>A 
  c.220C>T; 5 p.Pro74Ser;   
  c.297A>G; 6    
  c.526C>G; 7 p.Arg176Gly;   
  c.649C>T; 7 p.Arg217Cys;   
  c.689G>A; 7 p.Gly230Asp;   
  c.802G>A 7 p.Gly268Arg   
O ABO∗O.02.03 c.53G>T; 2 p.Arg18Leu; 1 ABO∗O.02 background with additional c.689G>A 
  c.220C>T; 5 p.Pro74Ser;   
  c.297A>G; 6    
  c.526C>G; 7 p.Arg176Gly;   
  c.689G>A; 7 p.Gly230Asp;   
  c.802G>A 7 p.Gly268Arg   
O ABO∗O.02.04 c.53G>T; 2 p.Arg18Leu; 1 ABO∗O.02 background with additional c.488C>T 
  c.220C>T; 5 p.Pro74Ser;   
  c.297A>G; 6    
  c.488C>T; 7 p.Thr163Met;   
  c.526C>G; 7 p.Arg176Gly;   
  c.802G>A 7 p.Gly268Arg   
New alleles not listed in the ABO (ISBT 001) blood group allele table (version 1.1 171023) 
A2 ABO∗A2.01(c.1032G>A) c.467C>T; 7 p.Pro156Leu; 1 ABO∗A2.01 background with additional c.1032G>A 
  c.1032G>A; 7    
  c.1061delC; 7 p.Pro354Argfs∗23   
B ABO∗B.01(c.122G>A) c.122G>A; 3 p.Ser41Asn 1 ABO∗B.01 background with additional c.122G>A 
  c.297A>G; 6    
  c.526C>G; 7 p.Arg176Gly;   
  c.657C>T; 7    
  c.703G>A; 7 p.Gly235Ser;   
  c.796C>A; 7 p.Leu266Met;   
  c.803G>C; 7 p.Gly268Ala   
  c.930G>A 7    
O ABO∗O.01.02(c.6C>T) c.6C>T; 1  1 ABO∗O.01.02 background with additional c.6C>T 
  c.106G>T; 3 p.Val36Phe;   
  c.188G>A; 4 p.Arg63His;   
  c.189C>T; 4    
  c.220C>T; 5 p.Pro74Ser;   
  c.261delG; 6 p.Thr88Profs∗31   
  c.297A>G; 6    
  c.646T>A; 7    
  c.681G>A; 7    
  c.771C>T; 7    
  c.829G>A 7    
O ABO∗O.01.68(c.595C>T) c.106G>T; 3 p.Val36Phe; 1 ABO∗O.01.68 background with additional c.595C>T 
  c.188G>A; 4 p.Arg63His;   
  c.189C>T; 4    
  c.261delG; 6 p.Thr88Profs∗31   
  c.297A>G; 6    
  c.595C>T; 7    
  c.646T>A; 7    
  c.681G>A; 7    
  c.771C>T; 7    
  c.829G>A 7    

Details on all sequences are provided in supplemental Table 2. Four observed alleles are not yet listed in the official ABO (ISBT 001) blood group allele table (version 1.1 171023).27 The corresponding novel nucleotide changes are highlighted in bold.

†

Positions of nucleotide changes relate to reference transcript NM_020469.3.

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