Table 2.
Neuronal intermediate filament mutations in human diseases
| IF | Mutation | Domain | Phenotype | Reference |
|---|---|---|---|---|
| Peripherin | ND | — | — | — |
| α-Internexin | ND | — | — | — |
| NF-L | E7L + P8R | Head | CMT-unspecified | 7 |
| NF-L | P8R | Head | CMT-2 | 8 |
| NF-L | P8Q | Head | CMT-1 | 7 |
| NF-L | P8A | Head | CMT-1 | 7 |
| NF-L | P8L | Head | CMT-1 | 7 |
| NF-L | P22T | Head | CMT-1 | 9 |
| NF-L | P22S | Head | CMT-2 | 10,11 |
| NF-L | E89K | Head | CMT-1 | 7 |
| NF-L | N97S | Rod | CMT-1 | 9 |
| NF-L | N148V | Rod | CMT-unspecified | 9 |
| NF-L | Q333P | Rod | CMT-2 | 12 |
| NF-L | E393K | Rod | CMT-2 | 13 |
| NF-L | ΔE528 | Tail | CMT-unspecified | 7 |
| NF-M | G336S | Rod | PD | 14 |
| NF-H | Δ34 aa 528–561 | KSP | ALS | 15 |
| NF-H | Δ8 aa 655–662 | KSP | ALS | 16 |
| NF-H | Δ6 aa 663–668 | KSP | ALS | 16 |
| NF-H | Δ14 aa 663–677 | KSP | ALS | 16 |
| NF-H | 28 aa insert 708 | KSP | ALS | 17 |
| NF-H | Δ6 aa 743–748 | KSP | ALS | 16 |
| NF-H | ΔK790 | KSP | ALS | 15 |
ND = none detected; PD = Parkinson’s disease; CMT-1 = Charcot–Marie–Tooth disease, type 1; ALS = amyotrophic lateral sclerosis; Δaa = amino acid deletion.