In ALS, three mutations have been associated with Gle1: a nonsense mutation that results in a truncated protein after residue 70, a splice site mutation that replaces the C-terminal 44 residues of Gle1CTD with a novel 88-residue sequence, and a missense mutation leading to the amino acid substitution R697C34. This evidence concerns the gene GLE1 and amyotrophic lateral sclerosis.