| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1758_1759delAA | p.Ser587ArgfsX14 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAA | Lys | del2c | Fs. | Stop at 600 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ASEF binding domain ARM3 |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 7_127381012674E102264 | Relative |
| Symptom |
| Reference ID | Reference |
| 7 | Unpublished data |