SOD1 Human pathology
Sep 23, 2003· Pathology. Mutations in the SOD1 gene are the most common form of inherited ALS, accounting for 20% of all the familial ALS forms and corresponding to 1%–2% of all ALS cases.. Since the first SOD1 missense mutations were reported in 1993, the number of known mutations has increased to more than 114. These are distributed throughout all five exons encoding the 153 amino acid .