Figure 1 of Siemiatkowska, Mol Vis 2014; 20:753-759.

Figure 1. Schematic representation of the location of mutations reported in nicotinamide mononucleotide adenylyltransferase 1 gene (NMNAT1). On top are shown missense and in-frame mutations, whereas the mutations below the gene have a truncating or extending effect. Variants identified in this study are indicated by white letters in black boxes. The most common mutation, p.E257K, is underlined.