| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.2246T>A | p.Leu749X |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTG | Leu | TAG | Stop | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ASEF binding domain ARM7 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 4_25899---25899 | Relative |
| Symptom |
| Reference ID | Reference |
| 4 | Unpublished data |