(A) The naa80 transcript, showing up- and downstream sequences (green), untranslated regions (red) and translated sequences (blue) of the introns, and parts of the 3,108 bp intron (gray). The location of the 13del mutation is shown by underlining, while the basepairs affected by the 5del/1in mutation is in yellow. The transcript sequence is also found in Table S1. (B) Alignment of parts of the naa80 CDS with the naa80 5del/1in and 13del alleles, showing the deletions and insertions (blue) and the locations of the new stop codons (red). The WT and mutant CDS and predicted protein sequences can be found in Table S1. (C) Representative DNA sequencing chromatograms for WT naa80 and hetero- and homozygous carriers (+/− or −/−) of either mutant.