SOD1 (Superoxide dismutase [Cu-Zn]) variants and mutations

SOD1 (also known as Superoxide dismutase [Cu-Zn]) is a human protein-coding gene encoding a superoxide dismutase [Cu-Zn] protein. It detoxifies superoxide radicals in the cytosol and mitochondrial intermembrane space, limiting oxidative injury. Pathogenic variants cause amyotrophic lateral sclerosis mainly through toxic properties of mutant protein rather than simple loss of antioxidant activity. This analysis covers 419 SOD1 variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes amyotrophic lateral sclerosis, spastic tetraplegia and axial hypotonia, progressive, and motor neuron disorder. Example SOD1 variants include A2V, T3M, and T3R.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, LitVar.

Notable SOD1 variants

Examples include A2V, T3M, T3R, K4E, K4R, K4K, K4N, A5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.