case_images: PMC9929429_01
case_images: Partial sequencing map of the patient's XK gene. The orange dotted box shows the c.942G>A variation. The asterisk shows the tryptophan change to a stop codon located at the 314 position of the XK protein.
case_images: fgene-14-1073139-g002.jpg
case_images: PMC9929429_01_fgene-14-1073139-g002.jpg
case_images: F2
case_images: Transfusion (ISBT) blood group database (Figure 2). This variation leads to a premature stop codon at position 314 and results in an incomplete C-terminally truncated protein (p.Trp314Ter) (Figure 2). The nucleotide sequence of the allele has been submitted to the GenBank database with the accession number OK18693.
case_images: Structural analysis of the patient's truncated XK protein. (A) Schematic diagram of the 10-transmembrane structure of the XK protein. The blue column indicates the retained transmembrane structure of the truncated XK protein; the dotted line and gray column represent deleted structures of the truncated protein, including the last two transmembrane structures, the last extracellular domain, and the entire C-terminal intracellular peptide segment. The red dots are binding sites XKCys347-KellCys72. This schematic representation is based on the base model constructed by. (B) Comparison of 3D conformations of mutant and wild-type XK proteins. The red and blue areas represent the overlapping regions; the blue dashed box is the deleted structure; the globular amino acid structure represents the truncation point of the protein. The rod-shaped amino acid indicated by the black arrow corresponds to the missing binding site of the Kell blood group system.
case_images: fgene-14-1073139-g003.jpg
case_images: PMC9929429_01_fgene-14-1073139-g003.jpg
case_images: F3
case_images: The result showed that the incomplete XK protein lacked the binding site for the Kell antigen (Figure 3).