RHCE cDNA mutation in patient DR. (A) The TCA nucleotide sequence, present in the RhD-negative control, is mutated to C in patient DR. The nearby nucleotide and amino acid sequence surrounding the mutation are shown. (B) The mutation introduces a frameshift that results in a completely different C-ter region (in bold) from amino acid residue 323 of the predicted shorter protein (star indicates the stop codon in the corresponding nucleotide sequence). The amino acid sequence shown in (A) is underlined.