Figure 1.
The RH locus encodes RhD and RhCE proteins. (A) RHD and RHCE have 10 exons (boxes), reside on chromosome 1 in reverse orientation, and are separated by ∼30 kilobases (kb). More than 600 RHD and 150 RHCE alleles have been reported. (B) RHD encodes the principal D antigen, and RHCE encodes both C/c and E/e antigens on a single protein in 4 combinations (ce, cE, Ce, or CE). The E and e antigens differ by 1 amino acid, a proline or alanine at position 226, denoted by the dark blue circle. There are 4 amino acid differences between C and c at positions 16, 60, 68, and 103, which are denoted by light blue circles. High-prevalence antigens are those that are expressed by >99% of populations, and many variant RH alleles are associated with a loss of expression of high-prevalence antigens. New or variant antigens arise from single-nucleotide variants lines or gene rearrangements such as structural variations. Figure created with BioRender.com.

The RH locus encodes RhD and RhCE proteins. (A) RHD and RHCE have 10 exons (boxes), reside on chromosome 1 in reverse orientation, and are separated by ∼30 kilobases (kb). More than 600 RHD and 150 RHCE alleles have been reported. (B) RHD encodes the principal D antigen, and RHCE encodes both C/c and E/e antigens on a single protein in 4 combinations (ce, cE, Ce, or CE). The E and e antigens differ by 1 amino acid, a proline or alanine at position 226, denoted by the dark blue circle. There are 4 amino acid differences between C and c at positions 16, 60, 68, and 103, which are denoted by light blue circles. High-prevalence antigens are those that are expressed by >99% of populations, and many variant RH alleles are associated with a loss of expression of high-prevalence antigens. New or variant antigens arise from single-nucleotide variants lines or gene rearrangements such as structural variations. Figure created with BioRender.com.

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