So far, a total of five missense mutations within the N-terminal region of OPTN (residues 1–119) have been documented in human patients, of which the R96L mutation is associated with ALS, and the H26D, E50K, M98K and E103D alterations are linked with POAG30, 37 (Supplementary Fig. 1c). The gene discussed is OPTN; the disease is amyotrophic lateral sclerosis.