| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.8068G>A | p.Ala2690Thr |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCA | Ala | ACA | Thr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EB1 & hDLG binding domain (C-t | Yes, non 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) |
|---|---|---|
| 0.44 | 0.20 (non pathogenous) | 65 (Probably pathogenous) |
| Sample ID | Patient status |
| 33_SAT379---08-168 | Relative |
| Symptom |
| Reference ID | Reference |
| 33 | Unpublished data |