Figure 1
From: Effects of mutations and deletions in the human optineurin gene
Schematic representation of mutants and deletion fragments examined in the current study. A. The full length of wild type (1–577) optineurin protein consists of a leucine zipper (LZ, dark blue) domain, LC3 interacting (LIR, green) motif, coiled-coil (CC, blue) domains, an ubiquitin binding domain (UBD, yellow) and a zinc finger (ZnF, purple) motif. Optineurin mutations are indicated. E50K is associated with NTG. R96L and E478G are associated with ALS. L157A and D474N mutations have not been linked to any diseases so far. B. Deletion fragments of optineurin. The glaucoma-associated 2 bp-AG insertion mutation, ALS-associated exon 5 deletion mutation and Q398X mutant result in truncation of the protein into a 1–148, 1–55 fragment and 1–398 fragment respectively and are therefore categorized as deletion fragments.