Nonsense variant <scp>c.322C</scp>&gt;<scp>T</scp> in <scp><i>B</i></scp> allele leads to <scp>ABO</scp> discrepancy in a Chinese stem cell donor

The authors have disclosed no conflicts of interest. The original contributions presented in the study are included in the article; further inquiries can be directed to the corresponding author. Figure S1. Genetic structure of the ABO gene. (A) The ABO gene was broken down into three target gene fragments for amplification, and loci, represented by short vertical lines on the three segments, show differences compared to the A1.01 sequence. The fragments overlapped by more than 1 kb between each amplicon of the same gene. The full-length gene haplotypes can be assembled based on the variant sites in the overlapping regions. (B) ABO gene sequencing results of the proband. Figure S2.The 3D structure of the B.01 allele, which includes all amino acids (GLY-176, SER-235, MET-266, ALA-268) that are associated with GTB activity in the proband. A nonsense variant at c.322C>T resulted in an amino acid change, where a glutamine codon was replaced by a termination codon (as shown in the green section of the figure), and the residual enzyme protein (yellow section) underwent premature translation termination. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.