Table 2.
Mutation | Functional domain | FTLD n = 1,808 | ALS n = 395 | Controls n = 3,899 |
---|---|---|---|---|
p.Ala17Vala | 1 | 1 | ||
p.Ala33Val | PB1 | 1 | 1 | |
p.Lys103Arg | PB1 | 1 | 2 | |
p.Ala117Val | 1 | 3 | ||
p.Pro118Ser | 1 | 2 | ||
p.Val153Ile | ZZ | 1 | 3 | |
p.Lys238Glu | TRAF6 | 17 | 6 | 14 |
p.Glu274Asp | PEST1 | 109 | 22 | 79 |
p.Arg321Cys | LIR | 3 | 1 | 1 |
p.Pro392Leu | UBA | 15 | 3 | 11 |
p.Pro439Leu | UBA | 2 | 2 |