Figure 3. Schematic representation of the structure of the 5 predicted adenosine monophosphate deaminase 2 transcripts and exonic distribution of all mutations reported to date.

The protein-coding sequence is colored yellow, the conserved adenosine monophosphate (AMP) deaminase domain (also protein coding) purple, and untranslated regions red. All pontocerebellar hypoplasia type 9 mutations reside within the catalytic AMP deaminase domain and therefore affect all 5 protein isoforms, while the one spastic paraplegia type 63 mutation falls outside this region and disrupts the coding region of only 3 of 5 adenosine monophosphate deaminase 2 transcripts. ^aNovarino et al.^{13 b}Akizu et al.^{9 c}ACC1.