Gene Symbol: SOD1
OMIM: 147450Chromosome location: 21q22.11
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Amyotrophic lateral sclerosis 1 |
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| Dna Change: | c.124G>A |
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| Protein Change: | p.Gly42Ser |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 2 |
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| Transcript: | NM_000454.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Central (north-west Tuscany) | 9 patients/ 6 unrelated families | NA | Battistini S et al., 2010Battistini S, Ricci C, Giannini F, Calzavara S, Greco G, Del Corona A, Mancuso M, Battistini N, Siciliano G, Carrera P, . G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype.. Amyotroph Lateral Scler. 2010; 11(1):210-5 |
References
Battistini S, Ricci C, Giannini F, Calzavara S, Greco G, Del Corona A, Mancuso M, Battistini N, Siciliano G, Carrera P, G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype.Amyotroph Lateral Scler. 2010; 11(1):210-5