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Table 1 Novel variants of the SOD1 gene found in the present study but absent in reference databases

From: Better survival in female SOD1-mutant patients with ALS: a study of SOD1-related natural history

Exon DNA changes Amino acid changes Case count Hereditary ACMG score Any report in the same codon from reference database Found in ExAC or 1000G Mutation prediction
MutationTaster PolyPhen-2 PROVEAN
Exon 1 c.61 T > G p.Phe21Val 1 fALS VUS p.Phe21Cys neither disease causing probably damaging damaging
Exon 2 c.97 T > G p.Trp33Gly 1 sALS VUS none neither polymorphism benign tolerated
Exon 4 c.240G > T p.Arg80Ser 1 fALS VUS none neither disease causing probably damaging damaging
Exon 4 c.256G > T p.Gly86Cys 1 fALS VUS p.Gly86Arg/p.Gly86Ser neither disease causing probably damaging damaging
Exon 4 c.268_269delinsTT p.Ala90Phe 1 fALS VUS p.Ala90Thr/p.Ala90Val neither disease causing probably damaging damaging
Exon 4 c.284 T > G p.Val95Gly 1 sALS Likely Pathogenic p.Val95Ala neither disease causing probably damaging damaging
Exon 5 c.397G > T p.Glu133Ter 1 sALS Likely Pathogenic p.Glu133Lys/ p.Glu133insTT/p.Glu133delGAA neither disease causing NA NA
  1. ACMG, American College of Medical Genetics and Genomics. ExAC, Exome Aggregation Consortium. VUS, variant of unknown significance