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 |