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. 2022 Oct;62(10):E55-E58.
doi: 10.1111/trf.17109. Epub 2022 Sep 20.

A new missense variant in exon 7 of the ABO gene, c.662G>A, in a family with Bw phenotype

Annika K Hult  1   2 , Åsa Hellberg  1   2 , Jill R Storry  1   2 , Martin Písacka  3 , Martin L Olsson  1   2
Affiliations

A new missense variant in exon 7 of the ABO gene, c.662G>A, in a family with Bw phenotype

Annika K Hult et al. Transfusion. 2022 Oct.
No abstract available

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Conflict of interest statement

The authors have no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Three‐dimensional molecular modeling of the ABO glycosyltransferase was performed with two different software packages. (A) A two‐angle display of the affected amino acid p.221Gly (yellow and indicated by arrow) shown in relation to the DVD motif (yellow and indicated by arrow) using the Cn3D program (on PDB file 1LZI which includes the UDP and H acceptor molecules). (B) Close‐up, as visualized in the AlphaFold protein structure database (https://alphafold.ebi.ac.uk) developed by DeepMind and EMBL‐EBI (on Uniprot ID P16442 and protein data Bank [PDB] file AF‐P16442‐F1), of amino acid p.221Gly and relevant hydrogen bonds (dashed lines) that are predicted to be absent when glycine (highlighted in pink/purple) is substituted by aspartic acid and is likely to result in destabilization of the protein structure.
FIGURE 2
FIGURE 2
(A) Pedigree with phenotype and genotype information. Traditional pedigree symbols are used to depict the family members and their relationships. The proband is indicated by an arrow. (B) Dot plots of the flow cytometry testing of RBCs from the proband, sister and niece tested with anti‐B (clone 9621A8), number of positive cells are given. A negative control (group O) is included.
See this image and copyright information in PMC

References

    1. Pisacka M, Kralova M, Kralova J. Bw phenotype caused by a new missense mutation in exon 7 – a family study in northern Moravia. Vox Sang. 2016;111(Supplement 1):385.
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    1. Olsson ML, Irshaid NM, Hosseini‐Maaf B, Hellberg Å, Moulds MK, Sareneva H, et al. Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel a and B subgroup alleles. Blood. 2001;98(5):1585–93. - PubMed
    1. Jumper J, Evans R, Pritzel A, Green T, Figurnov M, Ronneberger O, et al. Highly accurate protein structure prediction with AlphaFold. Nature. 2021;596(7873):583–9. - PMC - PubMed

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