Table 1 Sequence variations found in the TARDBP gene in the 285 sporadic amyotrophic lateral sclerosis cases from France
ExonVariantSexAge of onsetSite of onsetConservedPolyPhen predictionSIFT prediction
Damaging variants
    6p.G348CM55BulbarYesDamagingIntolerant
    6p.G348CM48BulbarYesDamagingIntolerant
    6p.G348CM46SpinalYesDamagingIntolerant
    6p.P363A*M61SpinalYesDamagingTolerant
    6p.Y374X*M63SpinalYesn/an/a
    6p.A382P*F68SpinalNoBenignTolerant
Benign variants
    1p.A66AF70BulbarYesBenignTolerant
    1p.A66AF64SpinalYesBenignTolerant
    63′utr c.1462 T>C*F73Bulbarn/an/an/a
  • n/a, not available; SIFT, Sorting Intolerant From Tolerant.

  • *New variants identified in this study.