| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS2-3C>G (c.446-3C>G) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | spl-3 | Spl. | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju, Sm,NM,HD |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| ccccttccacagGC |
| ccccttccagagGC |
| -11.2 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 02-ME14-J05A- | Relative | Male | 58 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |