| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3834_3838delTGTAG | p.Cys1278X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | del5c | Fs. | Stop at 1278 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #16 | Disulfide bonds 1265-1278 (C6) |
| At the mRNA level | On restriction map |
| No mechanism suspected | 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 F1027 I1063 | Proband | Female | familial | FRANCE |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 207 | - | Boileau C. (personnal communication 2013) |