| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.6947C>T | p.Pro2316Leu |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCA | Pro | CTA | Leu | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Microtubule binding domain (ba | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.62 | 0.02 (pathogenous) | 69 (Probably pathogenous) |
| Sample ID | Patient status |
| 10_------3266 P | Relative |
| Symptom |
| Reference ID | Reference |
| 10 | Unpublished data |