DNA sequence and encoded amino acid sequence of parts of the normal allele (top) and mutant allele (bottom) of exon 8 of the EpoR gene. The position of the 7-bp direct repeat is indicated by the two boxes in the normal allele. The 55 C-terminal amino acids encoded by the normal allele are not shown. The mutant allele (del5985-5991) contains a 7-bp deletion. The arrow indicates the position of the frameshift resulting in an abnormal amino acid sequence (bold letters). A chain termination codon is encountered after the 17th amino acid in the new reading frame.