| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1426_1427dup | p.Asn477AlafsX103 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | ins2c | Fs. | Stop at 579 |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #04 | Disulfide bonds 476-488 (C5) |
| At the mRNA level | On restriction map |
| Duplication of a repeated sequence | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0899 I0935 | Proband | Female | NA | FRANCE |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 207 | - | Boileau C. (personnal communication 2013) |