| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6418G>A | p.Gly2140Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGA | Gly | AGA | Arg | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #32 | conserved AA in cbEGF-like | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Nla III |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA03MON F0055 I0001 | Proband | Female | de novo | 15 years old | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| CNS-Lumbosacral dural ectasia | 15 |
| S-Arachnodactyly (M) | 15 |
| S-Crowding teeth (m) | 15 |
| S-High arched palate | 15 |
| S-Scoliosis > 20° (M)(1) | 15 |
| Reference ID | PubMed ID | Reference |
| 191 | 19802897 | Khau Van Kien P, Baux D, Pallares-Ruiz N, Baudoin C, Plancke A, Chassaing N, Collignon P, Drouin-Garraud V, Hovnanian A, Martin-Coignard D, Collod-B*roud G, B*roud C, Roux AF, Claustres M. "Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains". Hum Mutat. 2010 Jan;31(1):E1021-42. |