Figure 7.

Incidence of tandem dinucleotide substitutions in UNG deficiency. All dinucleotide substitutions from unique IGHV sequences obtained from an UNG deficient patient. Burgundy cells represent sequence inversions, light and dark purple cells represent juxtalocations of the 5’ and 3’ base in the pair (as seen from the non-transcribed strand), respectively. For unshaded cells, juxtalocation could not be assessed due to one or more nucleotides in the reference sequence matching the mutated sequence. Results could not be reliably corrected for dinucleotide substitutions that did not occur in tandem for each mutation independently due to the size of the dataset. However, simulation of dinucleotide substitutions resulting from independent single nucleotide substitutions showed an almost identical number of dinucleotide substitutions (n=76) as the number that was observed (n=67), suggesting that this UNG deficient patient has no tandem substitution events.