Names for ABO (ISBT 001) Blood Group Alleles

Transcription

1 Names for ABO (ISBT 001) blood group alleles v Names for ABO (ISBT 001) Blood Group Alleles General description: The ABO system was discovered as in 1900 and is considered the first and clinically most important system. The ABO gene and its coding exons give rise to one of two principally different glycosyltransferases. The A glycosyltransferase (GTA) catalyzes the addition of a donor substrate, UDP-N-acetylgalactosamine, to an acceptor substrate known as the H antigen. The B glycosyltransferase (GTB) differs by only four amino-acid substitutions from GTA and performs the same enzymatic reaction but uses UDP-galactose as donor substrate. In this way, genetic polymorphism gives rise to two related antigens in this system. Any polymorphism or mutation that s the activity or specificity of the encoded enzyme may therefore alter the ABO phenotype. Alterations that completely abolish enzymic activity give rise to the blood group O phenotype, in which the H antigen remains unconverted and no A or B antigen can be detected. If the genetic alteration decreases the activity of the enzyme, or alters its subcellular location and thereby decreases conversion of H to A or B, a weak A or B subgroup phenotype can result. Furthermore, certain polymorphisms result in promiscuous enzymes that can synthesize both A and B antigen, thereby resulting in the so-called cisab or B(A) phenotypes. The A phenotype is divided into A1 and A2. The former is more prevalent in all populations and has approximately times more A epitopes per red cell. The GTA1 is also better than GTA2 at synthesizing certain forms of A,.e.g. A type and. In addition to the A and B antigens, two other antigens are included in the ABO system, namely A,B and A1. The former is a joint epitope on A or B antigen and is therefore present in both A, B and AB phenotypes. The exact biochemical nature of the A1 antigen has been more controversial but has been proposed to represent A type. Gene name: ABO Number of exons: Initiation codon: Within exon 1 Stop codon: Within exon Entrez Gene ID: 28 LRG sequence: NG_009.1 (genomic) NM_ (transcript) Reference allele: ABO*A1.01 (shaded) Page 1 of 1

2 Names for ABO (ISBT 001) blood group alleles v Molecular bases associated with the A1, A2 and weak A phenotypes Reference allele ABO*A1.01 encodes A glycosyltransferase that synthesizes A antigen. Phenotype Allele name Nucleotide Exon Predicted amino acid A1 ABO*A1.01 A1 ABO*A1.02 c.c>t p.pro1leu A2 ABO*A2.01 c.c>t; c.101delc p.pro1leu; A2 ABO*A2.02 c.10c>t p.arg2trp A2 ABO*A2.0 c.10c>g p.arg2gly A2 ABO*A2.0 c.29a>g; c.2c>g; c.c>t; c.0g>a; c.1c>t; p.arg1gly; p.gly2ser; p.val2met A2 ABO*A2.0 c.c>t; c.1009a>g p.pro1leu; p.arggly A2 ABO*A2.0 c.101delc A2 ABO*A2.0 c.9g>c p.arg180pro A2 ABO*A2.08 c.c>t; c.9g>c p.pro1leu; p.arg180pro A2 ABO*A2.09 c.c>t; c.2g>a; c.101delc p.pro1leu; p.arg1his; A2 ABO*A2.10 c.28t>c; c.c>t A2 ABO*A2.11 c.2c>t; c.c>t A2 ABO*A2.12 c.190g>a; c.2g>a; c.101delc p.trp90arg; p.pro1leu p.pro89leu; p.pro1leu p.valile; p.arg1his; A2 ABO*A2.1 c.c>t; c.2c>t p.pro1leu; p.arg28cys A2 ABO*A2.1 c.10g>t; c.c>t; c.101delc p.valphe; p.arghis; p.pro1leu; A2 ABO*A2.1 c.0c>t; c.c>t p.thr1met; p.pro1leu A2 ABO*A2.18 c.c>t; c.22g>a p.pro1leu; p.arg21gln A2 ABO*A2.19 c.c>t; c.8g>a p.pro1leu; p.glu20lys Page 2 of 1

3 Names for ABO (ISBT 001) blood group alleles v Phenotype Allele name Nucleotide Exon Predicted amino acid A2 ABO*A2.20 c.c>t; p.pro1leu; p.val2met A ABO*A.01 c.81g>a p.asp291asn A ABO*A.02 ; c.101delc p.val2met; A ABO*A.0 c.88c>t p.leu280phe A ABO*A.0 c.c>t; c.9g>a; c.101delc p.arg180his; p.pro1leu; A ABO*A.0 c.820g>a p.val2met A ABO*A.0 c.c>t; c.820g>a p.pro1leu; p.val2met A ABO*A.0 c.c>t; c.c>t p.pro1leu; p.arg29trp Aweak ABO*AW.01 c.0c>t; c.c>t; c.101delc p.thr1met; p.pro1leu; Aweak ABO*AW.02 c.0g>c; c.c>t; c.101delc Aweak ABO*AW.0 c.20g>c; c.c>t; c.101delc p.gly11ala; p.pro1leu; p.arg8thr; p.pro1leu; Aweak ABO*AW.0 c.21c>t p.arg21trp Aweak ABO*AW.0 c.9a>g p.glu22gly Aweak ABO*AW.0 c.02c>g p.arg18gly Aweak ABO*AW.0 c.c>t; c.92c>t; c.101delc p.pro1leu; p.arg198trp; Aweak ABO*AW.08 c.29a>g; c.88c>t; c.2c>g; c.802g>a Aweak ABO*AW.09 c.g>a; c.10g>t; c.188g>a; c.c>t; c.101delc 2 p.proser; p.thr1met; p.arg1gly; p.gly28arg p.ala1thr; p.valphe; p.arghis; p.proser; p.pro1leu; Aweak ABO*AW.10 c.8g>a p.asp22asn Aweak ABO*AW.11 c.2g>a; c.21c>t p.val1met; p.arg21trp Page of 1

4 Names for ABO (ISBT 001) blood group alleles v Phenotype Allele name Nucleotide Exon Predicted amino acid Aweak ABO*AW.12 c.c>t; c.a>g p.pro1leu; p.met18val Aweak ABO*AW.1 c.2t>c 1 p.ala2_met20del Aweak ABO*AW.1 c.c>t; c.99c>a p.pro1leu; p.his2gln Aweak ABO*AW.1 c.+a>t Intron Altered splicing Aweak ABO*AW.1 c.1a>g; c.c>t; c.101delc Aweak ABO*AW.1 c.2c>t; c.c>t; c.101delc Aweak ABO*AW.18 c.t>c; c.c>t; c.101delc 1 p.ala2_met20del; p.pro1leu; p.pro9leu; p.pro1leu; p.ile11thr; p.pro1leu; Aweak ABO*AW.19 c.a>g; c.c>t; c.101delc Aweak ABO*AW.20 c.c>t; c.0g>a; c.101delc Aweak ABO*AW.21 c.c>t; c.0g>c; c.101delc Aweak ABO*AW.22 c.c>t; c.g>a; c.101delc Aweak ABO*AW.2 c.c>t; c.22g>a; c.101delc Aweak ABO*AW.2 c.c>t; c.2c>t; c.101delc Aweak ABO*AW.2 c.c>t; ; c.101delc Aweak ABO*AW.2 c.c>t; c.2g>a; c.101delc p.his1arg; p.pro1leu; p.pro1leu; p.glu20lys; p.pro1leu; p.glu20gln; p.pro1leu;val212met; p.pro1leu; p.arg21gln; p.pro1leu; p.arg28cys; p.pro1leu; p.val2met; p.pro1leu; p.arg1his; Aweak ABO*AW.2 c.2g>a; c.101delc p.arg1his; Aweak ABO*AW.28 c.98+2t>c Intron 1 Altered splicing Aweak ABO*AW.29 c.11t>a p.ile10asn Ax/Aweak ABO*AW.0.01 c.t>a p.phe21ile Ax/Aweak ABO*AW.0.02 c.t>a; c.81g>a p.phe21ile Page of 1

5 Names for ABO (ISBT 001) blood group alleles v Phenotype Allele name Nucleotide Exon Predicted amino acid Ax/Aweak ABO*AW.1.01 c.29a>g; c.t>a; c.81g>a; c.1c>t; p.phe21ile; p.val2met Ax/Aweak ABO*AW c.t>a; c.81g>a; c.1c>t; p.phe21ile; p.val2met Ax/Aweak ABO*AW.2 c.99g>a p.trp2ter Ax/Aweak ABO*AW. c.c>t; c.g>t p.pro1leu; p.trp181cys Ax/Aweak ABO*AW. c.c>t; ; c.1009a>g p.pro1leu; p.val2met; p.arggly Ax/Aweak ABO*AW. c.c>t; c.80c>t p.pro1leu; p.ala28val Ax/Aweak ABO*AW. c.0g>a p.glu20lys Ax/Aweak ABO*AW. c.90a>g p.lys1glu Ax/Aweak ABO*AW.8 c.2g>c p.met12ile Ax/Aweak ABO*AW.9 c.8t>c p.phe129leu Ax/Aweak ABO*AW.0 c.99g>t p.gly1cys Ax/Aweak ABO*AW.1 c.0a>g p.lys12glu Ax/Aweak ABO*AW.2 c.c>t; c.90a>g p.pro1leu; p.asp02gly Ax/Aweak ABO*AW. c.c>t; c.21c>t p.pro1leu; p.arg21trp Afinn/Aweak ABO*AW. c.+a>g Intron Altered splicing Abantu/Aweak ABO*AW. c.20+1delg; c.c>t; c.101delc Intron Altered splicing Am ABO*AM.01 c.c>t; c.1c>t p.pro1leu; p.ala2val Am ABO*AM.02 c.g>a p.val222met Ael ABO*AEL.01 c.80dupg p.phe29valfs*12 Ael ABO*AEL.02 c.c>t; c.t>a; c.81g>a p.pro1leu; p.phe21ile Ael ABO*AEL.0 c.80delg p.phe29serfs*20 Ael ABO*AEL.0 c.+g>a Intron Altered splicing Ael ABO*AEL.0 c.c>t; c.t>c p.pro1leu; p.ile2thr Ael ABO*AEL.0 c.2t>c; c.c>t p.met12thr; p.pro1leu Ael ABO*AEL.0 c.c>t; 81G>A; 1C>T; p.pro1leu; p.val2met Page of 1

6 Names for ABO (ISBT 001) blood group alleles v Phenotype Allele name Nucleotide Exon Predicted amino acid Ael ABO*AEL.08 c.c>t; c.80dupg p.pro1leu; p.phe29valfs*12 The A10-A10 alleles in dbrbc do not give rise to an altered amino acid sequence compared to other alleles, and so are not included here. A108 and A109 are listed as unpublished, and had no phenotype registered in dbrbc. A21 and A21 represent the same coding sequence as ABO*A2.01, but have been registered under other names due to intron polymorphisms. Also, their phenotypes are not given in dbrbc. Some alleles listed above are unpublished, but have been submitted to GenBank/dbRBC. It is also noteworthy that many of the alleles registered as associated with the rare A2 phenotype in Asia (e.g. A2.08, A2.1, A2.1, A2.18 and A2.20) cause amino acid substitutions that have been associated with weaker A subgroups in other studies. In the case of A2.18 and A2.19, the phenotype was given as A, not A2. Page of 1

7 Names for ABO (ISBT 001) blood group alleles v Molecular bases associated with the B and weak B phenotypes The seven B-associated polymorphisms are only shown for the first allele but are present in all the others except ABO*BEL.0, which uses A1.01. Differences compared to ABO*B.01, that encodes B glycosyltransferase, are given. Phenotype Allele name Nucleotide Exon Predicted amino acid B ABO*B.01 c.29a>g; c.2c>g; c.c>t; c.0g>a; c.9c>a; c.80g>c; c.90g>a p.arg1gly; p.gly2ser; p.leu2met; p.gly28ala B ABO*B.02 c.892g>t p.ala298ser B ABO*B.0 c.9c>t p.arg18cys B ABO*B.01 c.10c>t p.arg2trp B ABO*B.02 c.t>a p.phe21ile B ABO*B.0 c.1+g>a Intron Altered splicing B ABO*B.0 c.2g>t p.asp8tyr B ABO*B.0 c.2t>c p.met12thr B ABO*B.0 c.g>a p.asp18asn B ABO*B.0 c.10c>t p.ala1val B ABO*B.08 c.98a>c p.his1pro Bx/Bweak ABO*BW.01 c.81g>a p.asp291asn Bweak ABO*BW.02 c.8c>g p.asp291glu Bweak ABO*BW.0 c.21c>t p.arg21trp Bweak ABO*BW.0 c.8a>g p.asp18gly Bweak ABO*BW.0 c.9g>a p.arg180his Bweak ABO*BW.0 c.10a>g p.lysglu Bweak ABO*BW.0 c.10g>a p.arg2gln Bweak ABO*BW.08 c.8t>g p.met288arg Bweak ABO*BW.09 c.10a>t p.lysmet Bweak ABO*BW.10 c.a>g p.met18val Bweak ABO*BW.11 c.9t>c p.leu22pro Bweak ABO*BW.12 c.28c>t p.pro9leu Page of 1

8 Names for ABO (ISBT 001) blood group alleles v Phenotype Allele name Nucleotide Exon Predicted amino acid Bweak ABO*BW.1 c.2g>a p.val1met Bweak ABO*BW.1 c.a>g p.met189val Bweak ABO*BW.1 c.t>c p.ile192thr Bweak ABO*BW.1 c.8g>a p.asp22asn Bweak ABO*BW.18 c.802g>a p.gly28thr Bweak ABO*BW.19 c.t>a; c.81g>a p.phe21ile Bweak ABO*BW.20 c.81_81insg p.ser2valfs*? Bweak ABO*BW.21 c.88g>c p.gly20arg Bweak ABO*BW.22 c.0g>t p.arg18leu Bweak ABO*BW.2 c.g>c p.arg28pro Bweak ABO*BW.2 c.8g>t p.met18ile Bweak ABO*BW.2 c.10g>a; c.19c>g p.glyarg; p.leu20val Bweak ABO*BW.2 c.g>t 2 p.arg18leu Bweak ABO*BW.2 c.90a>g p.asp02gly Bweak ABO*BW.28 c.1t>c p.trp181arg Bweak ABO*BW.29 c.88c>g p.cys19trp Bweak ABO*BW.0 c.9g>t p.asp2tyr Bweak ABO*BW.1 c.900g>c p.trp00cys Bweak ABO*BW.2 c.808t>a p.phe20ile Bweak ABO*BW. c.0g>a p.val18met Bweak ABO*BW. c.889g>a p.glu29lys Bel ABO*BEL.01 c.1t>g p.met21arg Bel ABO*BEL.02 c.9g>t p.glu22asp Bel ABO*BEL.0 c.02c>t p.arg18trp Bel ABO*BEL.0 c.92g>a p.val18met Bel ABO*BEL.0 c.c>t; c.t>a; c.81g>a; c.1c>t; c.9c>a; c.80g>c; p.pro1leu; p.phe21ile; p.leu2met; p.gly28ala; p.val2met Other variants of B alleles exist, but the ones listed in dbrbc are either based on: 1) lack of one Page 8 of 1

9 Names for ABO (ISBT 001) blood group alleles v of the silent A vs. B SNPs (e.g. B102 has 90G; B10 has C); 2) silent mutations (B109 has 98C>T); ) intron SNPs (e.g. B10, B11, B11, B11); ) a sequence identical to a proven Bweak; ) unpublished (B11-B11). Page 9 of 1

10 Names for ABO (ISBT 001) blood group alleles v Molecular bases associated with cisab and B(A) phenotypes Differences compared to ABO*A1.01 are given. Phenotype Allele name Nucleotide Exon Predicted amino acid cisab ABO*cisAB.01 c.c>t; c.80g>c p.pro1leu; p.gly28ala cisab ABO*cisAB.02 c.2c>g; c.c>t; c.0g>a; c.80g>c cisab ABO*cisAB.0 c.29a>g; c.2c>g; c.c>t; c.00c>t; c.0g>a; c.9c>a; c.80g>c; c.90g>a p.arg1gly; p.gly2ser; p.gly28ala p.arg1gly; p.pro2ser; p.gly2ser; p.leu2met; p.gly28ala cisab ABO*cisAB.0 c.c>t; c.9c>a p.pro1leu; p.leu2met cisab ABO*cisAB.0 c.29a>g; c.2c>g; c.c>t; c.0g>a; c.9c>a; c.90g>a cisab ABO*cisAB.0 c.29a>g; c.c>t; c.0g>a; c.9c>a; c.80g>c; c.90g>a B(A) ABO*BA.01 c.29a>g; c.2c>g; c.9c>a; c.80g>c; c.90g>a B(A) ABO*BA.02 c.29a>g; c.2c>g; c.c>t; c.00c>g; c.0g>a; c.9c>a; c.80g>c; c.90g>a B(A) ABO*BA.0 c.29a>g; c.2c>g; c.c>t; c.9c>a; c.80g>c; c.90g>a B(A) ABO*BA.0 c.29a>g; c.2c>g; c.0a>g; c.c>t; c.0g>a; c.9c>a; c.80g>c; c.90g>a p.arg1gly; p.gly2ser; p.leu2met p.gly2ser; p.leu2met; p.gly28ala p.arg1gly; p.leu2met; p.gly28ala p.arg1gly; p.pro2ala; p.gly2ser; p.leu2met; p.gly28ala p.arg1gly; p.leu2met; p.gly28ala p.arg1gly; p.met21val; p.gly2ser; p.leu2met; p.gly28ala Page 10 of 1

11 Names for ABO (ISBT 001) blood group alleles v Phenotype Allele name Nucleotide Exon Predicted amino acid B(A) ABO*BA.0 c.29a>g; c.2c>g; c.1t>c; c.c>t; c.0g>a; c.9c>a; c.80g>c; c.90g>a B(A) ABO*BA.0 c.29a>g; c.2c>g; c.c>t; c.0g>a; c.9c>a; c.90g>a p.arg1gly; p.met21thr; p.gly2ser; p.leu2met; p.gly28ala p.arg1gly; p.gly2ser; p.leu2met Page 11 of 1

12 Names for ABO (ISBT 001) blood group alleles v Molecular bases associated with O (null) phenotype Differences compared to ABO*A1.01 are given. Phenotype Allele name dbrbc (alt.) name Nucleotide Exon Predicted amino acid O ABO*O O01 (O 1 ) c.21delg O ABO*O O02 (O 1v ) c.10g>t; c.21delg; c.29a>g; c.t>a; c.81g>a; c.1c>t; p.valphe; p.arghis; p.proser; O ABO*O.01.0 O0 c.21delg; c.9t>c O ABO*O.01.0 O0 c.21delg; c.29a>g O ABO*O.01.0 O0, O0 c.21delg; c.t>a; c.81g>a; c.1c>t; O ABO*O.01.0 O0 c.21delg; c.29a>g; c.t>a; c.81g>a; c.21c>t; c.1c>t; O ABO*O O09 c.21delg; c.18c>t; c.c>t O ABO*O O10 c.21delg; C>T O ABO*O O11 c.21delg; c.29a>g; c.2g>a; c.t>a; c.81g>a; c.1c>t; O ABO*O O12 c.21delg; c.29a>g; c.9c>t; c.t>a; c.81g>a; c.1c>t; O ABO*O.01.1 O1 c.21delg; c.29a>g; c.t>a; c.81g>a; c.1c>t; O ABO*O O22 c.21delg c.c>t; c.101delc Page 12 of 1

13 Names for ABO (ISBT 001) blood group alleles v Phenotype Allele name dbrbc (alt.) name Nucleotide Exon Predicted amino acid O ABO*O.01.2 O2 c.21delg; c.29a>g; c.t>a; c.1c>t; ; 10C>T O ABO*O.01.2 O2 c.10g>t; c.21delg; c.29a>g; c.2c>g; c.c>t; c.0g>a; c.9c>a; c.80g>c; c.90g>a O ABO*O.01.2 O2 c.21delg; c.t>c O ABO*O.01.2 O2 c.21delg; c.8c>a O ABO*O.01.2 O2 c.21delg; c.18c>t; c.c>t; c.29c>t O ABO*O O28 c.21delg; c.92a>g p.valphe; p.arghis; O ABO*O O29 c.21delg; c.18c>t O ABO*O.01.1 O1 c.21delg; c.29a>g; c.29g>a; c.t>a; c.81g>a; c.1c>t; O ABO*O.01.2 O2 c.21delg; c.29a>g; c.8c>t; c.t>a; c.81g>a; c.1c>t; O ABO*O.01. O c.21delg; c.29a>g; c.98c>t; c.t>a; c.81g>a; c.1c>t; O ABO*O.01. O c.21delg; c.29a>g; c.1g>a; c.t>a; c.81g>a; c.1c>t; Page 1 of 1

14 Names for ABO (ISBT 001) blood group alleles v Phenotype Allele name dbrbc (alt.) name Nucleotide Exon Predicted amino acid O ABO*O.01. O c.10g>t; c.21delg; c.29a>g; c.81g>a; c.1c>t; O ABO*O.01. O c.10g>t; c.21delg; c.29a>g; c.t>a; c.81g>a; O ABO*O.01.9 O9 c.21delg; c.29a>g; c.81g>a; c.1c>t; O ABO*O.01.0 O0 c.10g>t; c.21delg; c.29a>g; c.t>a; c.81g>a; O ABO*O.01.1 O1 c.21delg; c.29a>g; c.2c>g; c.c>t; c.0g>a; c.9c>a; c.80g>c; c.90g>a O ABO*O.01. O c.21delg; c.29a>g; c.t>a; c.1c>t; O ABO*O.01. O c.21delg; c.t>a; c.1c>t O ABO*O.01. O c.21delg; c.t>a; c.1c>t; O ABO*O.01. O; O0 c.21delg; c.9dela O ABO*O.01. O c.21delg; c.802g>a p.valphe; p.arghis; p.proser; p.valphe; p.arghis; p.proser; p.proser; p.valphe; p.arghis; Page 1 of 1

15 Names for ABO (ISBT 001) blood group alleles v Phenotype Allele name dbrbc (alt.) name Nucleotide Exon Predicted amino acid O ABO*O.01.8 O8 c.21delg; c.29a>g; c.t>a; c.81g>a; c.8c>t; 1C>T; O ABO*O.01.1 O1 c.21delg; c.g>c O ABO*O.01. O c.10g>a; c.10g>t; c.21delg; c.29a>g; c.t>a; c.81g>a; c.1c>t; O ABO*O.01.8 O8 c.10g>t; c.21delg; c.29a>g; c.t>a; c.81g>a; c.1c>t; O ABO*O.01.1 O1 c.21delg; O ABO*O.01. O c.10g>t; c.21delg; c.29a>g; c.2g>a; c.t>a; c.81g>a; c.1c>t; O ABO*O.01. O c.21delg; c.9t>c; c.10_108delagg O ABO*O c.190g>a; c.21delg O ABO*O.01.8 c.10g>t; c.188g>a; c.21delg; c.29a>g O ABO*O O0 (O 2 ) c.g>t; c.29a>g; c.2c>g; c.802g>a 2 p.glyarg; p.valphe; p.arghis; p.proser; p.valphe; p.arghis; p.valphe; p.arghis; p.proser; p.valile; p.valphe; p.arghis; p.arg18leu; p.proser; p.arg1gly; p.gly28arg Page 1 of 1

16 Names for ABO (ISBT 001) blood group alleles v Phenotype Allele name dbrbc (alt.) name Nucleotide Exon Predicted amino acid O ABO*O O8 (O 2-2) c.g>t; c.29a>g; c.2c>g; c.9c>t; c.89g>a; c.802g>a 2 p.arg18leu; p.proser; p.arg1gly; p.arg21cys; p.gly20asp; p.gly28arg O ABO*O.02.0 O9 (O 2-2) c.g>t; c.29a>g; c.2c>g; c.89g>a; c.802g>a 2 p.arg18leu; p.proser; p.arg1gly; p.gly20asp; p.gly28arg O ABO*O.02.0 O0 (O 2 -) c.g>t; c.29a>g; c.88c>t; c.2c>g; c.802g>a 2 p.arg18leu; p.proser; p.thr1met; p.arg1gly; p.gly28arg O ABO*O.0 O08 (O ) c.c>t; c.80dupg; c.101delc p.pro1leu; p.phe29valfs*8 O ABO*O.0.01 O1 (O ) c.8_88insg 2 p.val0glyfs*2 O ABO*O.0.02 O21 (O ) c.8_88insg; c.21delg; c.c>t 2 p.val0glyfs*2 O ABO*O.0 O2 (O ) c.22c>t p.gln108ter O ABO*O.0 O (O ) c.2g>a p.trp181ter O ABO*O.0 O1 (O01) O ABO*O.08 O1 (O02) c.c>t; c.89c>t p.pro1leu; p.ala298val c.92c>a p.tyr09ter O ABO*O O19 (R102) O ABO*O O20 (R10) c.t>a; c.81g>a; c.1c>t; c.29a>g; c.t>a; c.81g>a; c.1c>t; p.phe21ile; p.val2met p.phe21ile; p.val2met O ABO*O.10 O2 c._insg 2 p.phe2valfs* Page 1 of 1

17 Names for ABO (ISBT 001) blood group alleles v Phenotype Allele name dbrbc (alt.) name Nucleotide Exon Predicted amino acid O ABO*O.11 O c.29a>g; c.0_0delcag; c.2c>g; c.c>t; c.0g>a; c.9c>a; c.80g>c; c.90g>a O ABO*O.12 O c.29a>g; c.2c>g; c.g>a; c.c>t; c.0g>a; c.9c>a; c.80g>c; c.90g>a p.gln19del; p.arg1gly; p.gly2ser; p.leu2met; p.gly28ala p.arg1gly; Arg188His; p.gly2ser; p.leu2met; p.gly28ala O ABO*O.1 O8 c.2t>g p.val11gly O ABO*O.1 O9 c.t>a p.val212glu O ABO*O.1 O81 c.9t>c p.tyr2his O ABO*O.1 c.10g>t; c.188g>a; Deletion of exons - - p.? All alleles in which c.21delg occurs are numbered ABO*O.01.XX. Those O alleles that arise from a molecular basis other than c.21delg have been assigned independent ABO*O.XX numbers. Page 1 of 1