014 Dombrock Blood Group
The Dombrock blood group system consists of 7 antigens carried on a GPI-linked glycoprotein (DO, ART4, CD297) that consists of 314 amino acids. It has a leader sequence and a GPI motif, both of which are cleaved from the membrane bound protein.
Antigens
[1] Doa
[2] Dob
[3] Gya
[4] Hy
[5] Joa
[6] DOYA
[7] DOMR
[8] DOLG
[9] DOLC
[10] DODE
Reference Info
Gene: ART4
Allele: DO*01. Acceptable: DO*A
Seq: NG_007477.1
(genomic), NM_021071.2 (transcript)
Entrez GeneID: 420
Number of exons: 3
Allele: DO*01. Acceptable: DO*A
Seq: NG_007477.1
(genomic), NM_021071.2 (transcript)
Entrez GeneID: 420
Number of exons: 3
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 4:Null Alleles | DO:-3 or Gy(a-) | DO*01N.01 | c.442C>T | Exon 2 | p.Gln148Stop‡ | chr12:14840856 |
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| 4:Null Alleles | DO:-3 or Gy(a-) | DO*02N.02 | c.144+2T>C | Intron 1 | Alternative splicing | chr12:14842968 |
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| 4:Null Alleles | DO:-3 or Gy(a-) | DO*01N.02 | c.343_350del | Exon 2 |
p.Met115 Hisfs*18 |
chr12:14840955 |
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| 4:Null Alleles | DO:-3 or Gy(a-) | DO*02N.01 | c.145-2A>G | Intron 1 | Alternative splicing | chr12:14841155 |
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| 4:Null Alleles | DO:-3 or Gy(a-) | DO*02N.03 |
c.185T>C c.793A>G |
Exon 2
Exon 2 |
p.Phe62Ser p.Asn265Asp |
chr12:14841113 chr12:14840505 |
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| 4:Null Alleles | DO:-3 or Gy(a-) | DO*02N.04 |
c.268C>T c.793A>G |
Exon 2
Exon 2 |
p.Gln90* p.Asn265Asp |
chr12:14841030 chr12:14840505 |
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| 0:Antigen Alleles | DO:1+ or Do(a+) | DO*01 or DO*A | ||||||||
| 0:Antigen Alleles | DO:2 or Do(b+) | DO*02 or DO*B | c.793A>G | Exon 2 | p.Asn265Asp | chr12:14840505 |
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| 0:Antigen Alleles | DO:-4 or Hy- | DO*02.-04 | c.323G>T | Exon 2 | p.Gly108Val | chr12:14840975 |
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| 0:Antigen Alleles | DO:-5 or Jo(a-) | DO*01.-05 | c.350C>T | Exon 2 | p.Thr117Ile | chr12:14840948 |
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| 0:Antigen Alleles | DO:-6 or DOYA- | DO*01.-06 | c.547T>G | Exon 2 | p.Tyr183Asp | chr12:14840751 |
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| 0:Antigen Alleles | DO:-7 or DOMR- | DO*02.-07 |
c.431C>A c.432C>A c.793A>G |
Exon 2
Exon 2 Exon 2 |
p.Ala144Glu p.Asn265Asp |
chr12:14840867 chr12:14840866 chr12:14840505 |
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| 0:Antigen Alleles | DO:-8 or DOLG- | DO*02.-08 |
c.674T>A c.793A>G |
Exon 2
Exon 2 |
p.Leu225Gln p.Asn265Asp |
chr12:14840624 chr12:14840505 |
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| 0:Antigen Alleles | DO:-9 or DOLC- | DO*01.-09 | c.566C>T | Exon 2 | p.Thr189Met | chr12:14840732 |
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| 0:Antigen Alleles | DO:-10 or DODE- | DO*01.-10 | c.405C>A | Exon 2 | p.Asp135Glu | chr12:14840893 |
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