| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3422C>T | p.Pro1141Leu | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCG | Pro | CTG | Leu | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #13 | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0855 I0891 | Proband | Female | de novo | FRANCE |
| Phenotypic group | Disease |
| NA | Isolated skeletal features |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 207 | - | Boileau C. (personnal communication 2013) |