| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3241T>G | p.Cys1081Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | GGT | Gly | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Disulfide bonds 1081-1095 (C2) | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): BsiY I Lost restriction site(s): none |
| 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 |
| FRA01BOU F0113 I0151 | Proband | Male | de novo | at birth | FRANCE |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | |
| O-Iridodonesis | |
| S-Arachnodactyly (M) | |
| S-Increased body length | |
| S-Joint hypermobility (m) | |
| S-Joint limitations | |
| S-Kyphosis | |
| S-Pectus excavatum moderate (m)(1) | |
| S-Protusio acetabulæ (M)(2) | |
| S-Scoliosis > 20° (M)(1) | |
| SI-Other herniae | diaphragmatic |
| Reference ID | PubMed ID | Reference |
| 64 | 12938084 | Collod-B*roud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, B*roud C, Boileau C. "Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database". Hum Mutat. 2003 Sep;22(3):199-208. |