Table 1.
Variants of the Duffy blood group (ISBY008)
| Phenotype | Allele name | Nucleotide changea | Exon | Predicted amino acid change |
|---|---|---|---|---|
| FY:1 or Fy(a+) | FY*01 or FY*A | c.125A>G | 2 | p.Asp42Gly |
| FY:2 or Fy(b+)b | FY*02 or FY*B | |||
| Null phenotypes | ||||
| Fy(a−b−) erythroid cells only | FY*01N.01 | c.-67T>C | Promoter | p.0 |
| Fy(a−b−) | FY*01N.02 | c.281_295del | 2 | p.Pro94_Val98del |
| Fy(a−b−) | FY*01N.03 | c.408G>A | 2 | p.Trp136Ter |
| Fy(a−b−) | FY*01N.04 | c.287G>A | 2 | p.Trp96Ter |
| Fy(a−b−) | FY*01N.05 | c.327delC | 2 | p.Phe109Leufs*12 |
| Fy(a−b−) | FY*01N.06 | c.395G>A | 2 | p.Gly132Asp |
| Fy(a−b−) | FY*01N.07 | c.719delG | 2 | p.Gly240Alafs*4 |
| Fy(a−b−) erythroid cells only | FY*01N.08 | c.-69T>C | Promoter | p.0 |
| Fy(a−b−) | FY*01N.09 | c.296_496delinsAGGCCACTG | 2 | p.Leu99_Leu165delins GlnAlaThrAla |
| Fy(a−b−) erythroid cells only | FY*02N.01 | c.-67T>C | Promoter | p.0 |
| Fy(a−b−) | FY*02N.02 | c.407G>A | 2 | p.Trp136Ter |
| Fy(a−b−) | FY*02N.03 | c.781G>A | 2 | p.Gly261Arg |
| Fy(a−b−) | FY*02N.04 | c.179_180delCT | 2 | p.Ser60Cysfs*16 |
| Fy(a−b−) | FY*02N.05 | c.895G>A | 2 | p.Ala299Thr |
| Fy(a−b−) | FY*02N.06 | c.151delT | 2 | p.Cys51Alafs*24 |
| Weak phenotypes | ||||
| Fy(a+w) | FY*01W.01 | c.265C>T | 2 | p.Arg89Cys |
| Fy(a+w) | FY*01W.02 | c.265C>T | 2 | p.Arg89Cys |
| c.298G>A | p.Ala100Thr | |||
| Fy(a+w) | FY*01W.03 | c.680G>A | 2 | p.Gly227Glu |
| Fy(b+w), Fyx | FY*02W.01 | c.265C>T | 2 | p.Arg89Cys |
| c.298G>A | p.Ala100Thr | |||
| Fy(b+w), Fyx | FY*02W.02 | c.145G>T | 2 | p.Ala49Ser |
| c.265C>T | p.Arg89Cys | |||
| c.298G>A | p.Ala100Thr | |||
| Fy(b+w) | FY*02W.03 | c.266G>A | 2 | p.Arg89His |
| Fy(b+w) | FY*02W.04 | c.901C>T | 2 | p.Pro301Ser |
a Nucleotide numbering within the transcript is numbered according to the major transcript. The GATA-1 mutation listed here as c.-67T>C has been reported previously as − 33 and − 46
b Reference allele FY*02 encodes FY3, FY5, FY6