008 Duffy Blood Group
The Duffy blood group system consists of five antigens carried on a multipass membrane glycoprotein called the Duffy Antigen Receptor for Chemokines (aka DARC, CD234). It consists of 336 (major) and 338 (minor) amino acids. The major transcript is derived from exon 1 and exon 2 of FY; the minor product is a transcript initiated at the beginning of exon 2. The amino terminus is predicted to be extracellular and the carboxyl terminus intracellular.
Reference Info
Gene: ACKR1
Allele: FY*02. Acceptable: FY*B
Seq: NG_011626.2 (genomic), NM_002036.3 (transcript)
Entrez GeneID: 2532
Number of exons: 2
Allele: FY*02. Acceptable: FY*B
Seq: NG_011626.2 (genomic), NM_002036.3 (transcript)
Entrez GeneID: 2532
Number of exons: 2
Loading Data ... |
allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
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0:Antigen Alleles | FY:1 or Fy(a+) | FY*01 or FY*A | c.125A>G | Exon 2 | p.Asp42Gly | chr1:159205564 |
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4:Null Alleles | Fy(a-b-) erythroid cells only‡ | FY*01N.01 | c.-67T>C | Exon 1 | p.0 | chr1:159204893 | ||||
4:Null Alleles | Fy(a-b-) | FY*01N.02 | c.286_299del | Exon 2 | p.Trp96_Thrfs*22 | chr1:159205725 |
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4:Null Alleles | Fy(a-b-) | FY*01N.03 | c.408G>A | Exon 2 | p.Trp136* | chr1:159205847 |
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4:Null Alleles | Fy(a-b-) | FY*01N.04 | c.287G>A | Exon 2 | p.Trp96Ter | chr1:159205726 |
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4:Null Alleles | Fy(a-b-) | FY*01N.05 | c.327delC | Exon 2 | p.Phe109Leufs*12 | chr1:159205766 |
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4:Null Alleles | Fy(a-b-) | FY*01N.06 | c.395G>A | Exon 2 | p.Gly132Asp | chr1:159205834 |
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4:Null Alleles | Fy(a-b-) | FY*01N.07 | c.719delG | Exon 2 | p.Gly240Alafs*4 | chr1:159206158 |
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4:Null Alleles | Fy(a-b-) erythroid cells only | FY*01N.08 | c.-69T>C | Exon 1 | p.0 | chr1:159204891 |
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4:Null Alleles | Fy(a-b-) | FY*01N.09 | c.296_496delinsAGGCCACTG | Exon 2 | p.Leu99_Leu165delinsGlnAlaThrAla | chr1:159205735 |
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4:Null Alleles | Fy(a−b−) | FY*01N.10 | c.762G>A | Exon 2 | p.Trp254Ter | chr1:159206201 |
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4:Null Alleles | Fy(a−b−) | FY*01N.11 | c.854delT | Exon 2 | p.Leu285Argfs*2 | chr1:159206293 |
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1:Weak Alleles | Fy(a+w) | FY*01W.01 | c.265C>T | Exon 2 | p.Arg89Cys | chr1:159205704 |
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1:Weak Alleles | Fy(a+w) | FY*01W.02 |
c.265C>T c.298G>A |
Exon 2
Exon 2 |
p.Arg89Cys p.Ala100Thr |
chr1:159205704 chr1:159205737 |
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1:Weak Alleles | Fy(a+w) | FY*01W.03 | c.680G>A | Exon 2 | p.Gly227Glu | chr1:159206119 |
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0:Antigen Alleles | FY:2 or Fy(b+) | FY*02 or FY*B | c.125G>A | Exon 2 | p.Gly42Asp | chr1:159205564 |
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0:Antigen Alleles | FY:-2,3 | FY*02.01 | c.126T>G | Exon 2 | p.Gly42Glu | chr1:159205565 |
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4:Null Alleles | Fy(a-b-) erythroid cells only | FY*02N.01 | c.-67T>C | Exon 1 | p.0 | chr1:159204893 | ||||
4:Null Alleles | Fy(a-b-) | FY*02N.02 | c.407G>A | Exon 2 | p.Trp136Ter | chr1:159205846 |
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4:Null Alleles | Fy(a-b-) | FY*02N.03 | c.781G>A | Exon 2 | p.Gly261Arg | chr1:159206220 |
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4:Null Alleles | Fy(a-b-) | FY*02N.04 | c.179_180delCT | Exon 2 | p.Ser60Cysfs*16 | chr1:159205618 |
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4:Null Alleles | Fy(a-b-) | FY*02N.05 | c.895G>A | Exon 2 | p.Ala299Thr | chr1:159206334 |
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4:Null Alleles | Fy(a-b-) | FY*02N.06 | c.151delT | Exon 2 | p.Cys51Alafs*24 | chr1:159205590 |
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4:Null Alleles | Fy(a−b−) | FY*02N.07 | c.124delG | Exon 2 | p.Asp42Metfs*33 | chr1:159205563 |
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4:Null Alleles | Fy(a−b−) | FY*02N.08 | c.400delT | Exon 2 | p.Cys134Valfs*14 | chr1:159205839 |
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1:Weak Alleles | Fy(b+w), Fyx | FY*02W.01 |
c.265C>T c.298G>A |
Exon 2
Exon 2 |
p.Arg89Cys p.Ala100Thr |
chr1:159205704 chr1:159205737 |
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1:Weak Alleles | Fy(b+w), Fyx | FY*02W.02 |
c.145G>T c.265C>T c.298G>A |
Exon 2
Exon 2 Exon 2 |
p.Ala49Ser p.Arg89Cys p.Ala100Thr |
chr1:159205584 chr1:159205704 chr1:159205737 |
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1:Weak Alleles | Fy(b+w) | FY*02W.03 | c.266G>A | Exon 2 | p.Arg89His | chr1:159205705 |
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1:Weak Alleles | Fy(b+w) | FY*02W.04 | c.901C>T | Exon 2 | p.Pro301Ser | chr1:159206340 |
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1:Weak Alleles | Fy(b+w) | FY*02W.05 | c.976C>T | Exon 2 | p.Ser326Phe | chr1:159206415 |
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