Exon | Variant | Sex | Age of onset | Site of onset | Conserved | PolyPhen prediction | SIFT prediction |
Damaging variants | |||||||
6 | p.G348C | M | 55 | Bulbar | Yes | Damaging | Intolerant |
6 | p.G348C | M | 48 | Bulbar | Yes | Damaging | Intolerant |
6 | p.G348C | M | 46 | Spinal | Yes | Damaging | Intolerant |
6 | p.P363A* | M | 61 | Spinal | Yes | Damaging | Tolerant |
6 | p.Y374X* | M | 63 | Spinal | Yes | n/a | n/a |
6 | p.A382P* | F | 68 | Spinal | No | Benign | Tolerant |
Benign variants | |||||||
1 | p.A66A | F | 70 | Bulbar | Yes | Benign | Tolerant |
1 | p.A66A | F | 64 | Spinal | Yes | Benign | Tolerant |
6 | 3′utr c.1462 T>C* | F | 73 | Bulbar | n/a | n/a | n/a |
n/a, not available; SIFT, Sorting Intolerant From Tolerant.
*New variants identified in this study.