Table 1.
FUS/TBK1 double-mutant index patients previously described and discovered in this study (AF according to GnomAD)
Pat | ALS type | FUS variant | Variation | AF | Evaluation | TBK1 variant | Variation | AF | Evaluation | Reference | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|
cDNA | Protein | cDNA | Protein | |||||||||
A | FALS | c.1540A > G | p.R514G | Missense | 0 | Pathogenic | c.1328_1331del | p.I443Nfs*3 | LoF | 0 | Pathogenic | This study |
B | FALS | c.1570A > G | p.R524G | Missense | 0 | Pathogenic | c.555 T > A | p.Y185* | LoF | 0 | Pathogenic | [8, 11] |
C | FALS | c.1562G > A | p.R521H | Missense | 4E-06 | Pathogenic | c.1522C > A | p.L508I | Missense | 0.00078 | Likely not pathogenic | This study |
D | FALS | c.1561C > T | p.R521C | Missense | 1E-05 | Pathogenic | c.1073G > A | p.R358H | Missense | 6.4E-05 | Likely not pathogenic | [13] |
E | SALS | c.*59G > A | - | 4E-06 | VUS, but experimental evidence for pathogenicity | c.1445_1446delAT | p.Y482* | LoF | 0 | VUS | [12] | |
F | SALS | c.*1998 T > C | - | 0.002 | VUS | c.2170C > T | p.R724C | Missense | 6E-05 | VUS, but experimental evidence for pathogenicity | [12] | |
G | SALS | c.*816delG | - | 0 | VUS | c.352G > A | p.D118N | Missense | 4.2E-06 | VUS | [12, 16] |