010 Diego Blood Group
The Diego blood group system consists of 22 antigens carried on a multipass membrane glycoprotein called band 3 (aka AE1; SLC4A1; CD233). It consists of 911 amino acids and both amino and carboxyl termini are predicted to be intracellular. The transmembrane domains of band 3 function as the RBC anion transporter while the long amino terminal region of the protein is critical to maintaining RBC shape integrity through its interaction with the cytoskeleton.
Antigens
[1] Dia
[2] Dib
[3] Wra
[4] Wrb
[5] Wda
[6] Rba
[7] WARR
[8] ELO
[9] Wu
[10] Bpa
[11] Moa
[12] Hga
[13] Vga
[14] Swa
[15] BOW
[16] NFLD
[17] Jna
[18] KREP
[19] Tra
[20] Fra
[21] SW1
[22] DISK
Reference Info
Gene: SLC4A1
Allele: DI*02. Acceptable: DI*B, or Dib if inferred by haemagglutination
Seq: NG_007498.1
(genomic), NM_000342.3 (transcript)
Entrez GeneID: 6521
Number of exons: 20
Allele: DI*02. Acceptable: DI*B, or Dib if inferred by haemagglutination
Seq: NG_007498.1
(genomic), NM_000342.3 (transcript)
Entrez GeneID: 6521
Number of exons: 20
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 0:Antigen Alleles | DI:1,-2 or Di(a+b-) | DI*01 or DI*A | c.2561C>T | Exon 19 | p.Pro854Leu | chr17:44251253 |
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| 0:Antigen Alleles | DI:-1,2 or Di(a-b+) | DI*02 or DI*B | ||||||||
| 0:Antigen Alleles | DI:3,-4 or Wr(a+b-) | DI*02.03 | c.1972G>A | Exon 16 | p.Glu658Lys | chr17:44254581 |
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| 0:Antigen Alleles | DI:5 or Wd(a+) | DI*02.05 | c.1669G>A | Exon 14 | p.Val557Met | chr17:44255804 |
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| 0:Antigen Alleles | DI:6 or Rb(a+) | DI*02.06 | c.1643C>T | Exon 14 | p.Pro548Leu | chr17:44255830 |
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| 0:Antigen Alleles | DI:7 or WARR+ | DI*02.07 | c.1655C>T | Exon 14 | p.Thr552Ile | chr17:44255818 |
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| 0:Antigen Alleles | DI:8 or ELO+ | DI*02.08 | c.1294C>T | Exon 12 | p.Arg432Trp | chr17:44257796 |
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| 0:Antigen Alleles | DI:9,-22 or Wu+, DISK- | DI*02.09 | c.1694G>C | Exon 14 | p.Gly565Ala | chr17:44255779 |
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| 0:Antigen Alleles | DI:10 or Bp(a+) | DI*02.10 | c.1707C>A | Exon 14 | p.Asn569Lys | chr17:44255766 |
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| 0:Antigen Alleles | DI:11 or Mo(a+) | DI*02.11 | c.1967G>A | Exon 16 | p.Arg656His | chr17:44254586 |
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| 0:Antigen Alleles | DI:12 or Hg(a+) | DI*02.12 | c.1966C>T | Exon 16 | p.Arg656Cys | chr17:44254587 |
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| 0:Antigen Alleles | DI:13 or Vg(a+) | DI*02.13 | c.1663T>C | Exon 14 | p.Tyr555His | chr17:44255810 |
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| 0:Antigen Alleles | DI:14 or Sw(a+) | DI*02.14.01 | c.1937G>A | Exon 16 | p.Arg646Gln | chr17:44254616 |
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| 0:Antigen Alleles | DI:14 or Sw(a+) | DI*02.14.02 | c.1936C>T | Exon 16 | p.Arg646Trp | chr17:44254617 |
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| 0:Antigen Alleles | DI:15 or BOW+ | DI*02.15 | c.1681C>T | Exon 14 | p.Pro561Ser | chr17:44255792 |
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| 0:Antigen Alleles | DI:16 or NFLD+ | DI*02.16 |
c.1287A>T c.1681C>G |
Exon 12
Exon 14 |
p.Glu429Asp p.Pro561Ala |
chr17:44257803 chr17:44255792 |
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| 0:Antigen Alleles | DI:17 or Jn(a+) | DI*02.17 | c.1696C>T | Exon 14 | p.Pro566Ser | chr17:44255777 |
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| 0:Antigen Alleles | DI:18 or KREP+ | DI*02.18 | c.1696C>G | Exon 14 | p.Pro566Ala | chr17:44255777 |
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| 0:Antigen Alleles | DI:19 or Tr(a+) | DI*02.19 | c.1653G>C | Exon 14 | p.Lys551Asn | chr17:44255820 |
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| 0:Antigen Alleles | DI:20 or Fr(a+) | DI*02.20 | c.1438G>A | Exon 13 | p.Glu480Lys | chr17:44257538 |
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| 0:Antigen Alleles | DI:21 or SW1+ | DI*02.21 Identical to DI*02.14.02? | c.1936C>T | Exon 16 | p.Arg646Trp | chr17:44254617 |
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| 4:Null Alleles | Di(a-b-) | DI*02N.01 | c.1462G>A | Exon 13 | p.Val488Met | chr17:44257514 |
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