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Table 1 Variants of the Duffy blood group (ISBY008)

From: The biology of unconventional invasion of Duffy-negative reticulocytes by Plasmodium vivax and its implication in malaria epidemiology and public health

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

  1. 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
  2. b Reference allele FY*02 encodes FY3, FY5, FY6