Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis

Hum Genet. 1996 Jul;98(1):48-50. doi: 10.1007/s004390050157.


Mutation analysis of the superoxide dismutase gene SOD1 in a familial case of amyotrophic lateral sclerosis revealed a T --> C transition at codon 151 of exon 5. This mutation results in the substitution of an isoleucine for a threonine. It appears to affect formation of dimers of the protein and is the most C-terminal amino acid change in SOD1 described to date.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Amyotrophic Lateral Sclerosis / enzymology
  • Amyotrophic Lateral Sclerosis / genetics*
  • Cloning, Molecular
  • Conserved Sequence / genetics
  • DNA Primers
  • Female
  • Humans
  • Lipid Peroxidation
  • Middle Aged
  • Molecular Sequence Data
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Protein Conformation
  • Sequence Alignment
  • Superoxide Dismutase / chemistry
  • Superoxide Dismutase / genetics*


  • DNA Primers
  • Superoxide Dismutase

Associated data

  • GENBANK/X95228