Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations.
Mutations of the SOD1 gene, encoding the enzyme copper/zinc superoxide dismutase, have been identified in around 20% of patients with familial amyotrophic lateral sclerosis (ALS), and also in patients with apparently sporadic ALS. The table documents the mutations identified and published to date, and references clinical and pathological descriptions of the patients and families with individual mutations. The table includes 63 different mutations of SOD1 at 43 codons, three intronic sites, and two in the 3' untranslated region. Most of the mutations are heterozygotes, with autosomal dominant inheritance, but a small number of individuals appear to be sporadic, or are homozygotes with autosomal dominant recessive inheritance.
Orrell
R W
RW
University Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK. rorrell@rfhsm.ac.uk
D000595:Amino Acid Sequence / Q000235:genetics; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1