Table 3.
Alleles in the JR blood group system
| Reference allele ABCG2*01 encodes JR1 (Jra) | |||||
|---|---|---|---|---|---|
| Phenotype | Allele name | Nucleotide change | Intron/Exon | Amino acid changea | Reference |
| Jr(a+) | ABCG2*01 | ||||
| Null phenotypes | |||||
| Jr(a−) | ABCG2*01N.01 | c.376C > T | Exon 4 | p.Gln126Ter | [20, 21] |
| Jr(a−) | ABCG2*01N.02·01 | c.706C > T | Exon 7 | p.Arg236Ter | [20, 21] |
| Jr(a−) | ABCG2*01N.02·02 | c.34G > A | Exon 2 | p.Val12Met | [20] |
| c.706C > T | Exon 7 | p.Arg236Ter | |||
| Jr(a−) | ABCG2*01N.03 | c.736C > T | Exon 7 | p.Arg246Ter | [20] |
| Jr(a−) | ABCG2*01N.04 | c.337C > T | Exon 4 | p.Arg113Ter | [28] |
| Jr(a−) | ABCG2*01N.05 | c.784G > T | Exon 7 | p.Gly262Ter | [28] |
| Jr(a−) | ABCG2*01N.06 | c.34G > A | Exon 2 | p.Val12Met | [28] |
| c.1591C > T | Exon 13 | p.Gln531Ter | |||
| Jr(a−) | ABCG2*01N.07 | c.187_197delATATTATCGAA | Exon 2 | p.Ile63fs | [21] |
| Jr(a−) | ABCG2*01N.08 | c.542_543insA | Exon 6 | p.Phe182fs | [21] |
| Jr(a−) | ABCG2*01N.09 | c.730C > T | Exon 7 | p.Gln244Ter | [21] |
| Jr(a−) | ABCG2*01N.10 | c.791_792delTT | Exon 7 | p.Leu264fs | [21] |
| Jr(a−) | ABCG2*01N.11 | c.875_878dupACTT | Exon 8 | p.Phe293fs | [21] |
| Jr(a−) | ABCG2*01N.12 | c.1111_1112delAC | Exon 9 | p.Thr371fs | [21] |
| Jr(a−) | ABCG2*01N.13 | c.34G > A | Exon 2 | p.Val12Met | [28] |
| c.244_245insC | Exon 3 | p.Thr82fs | |||
| Jr(a−) | ABCG2*01N.14 | c.1017_1019delCTC | Exon 9 | p.Ser340del | [29] |
| Altered phenotypes | |||||
| Jr(a+w) | ABCG2*01W.01 | c.421C > A | Exon 5 | p.Gln141Lys | [29] |
| Jr(a+w) | ABCG2*01W.02 | c.1858G > A | Exon 16 | p.Asp620Asn | [29] |
a
For more details regarding the amino acid changes, consult the ISBT Working Party pages at http://www.isbtweb.org/working-parties/red-cell-immuno-genetics-and-blood-group-terminology/blood-group-terminology/.