| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6815A>G | p.Tyr2272Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAT | Tyr | TGT | Cys | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #35 | Ca2+ binding | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Afl III, Nla III, Nsp I, Nsp7524 I, NspC I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0228 I0267 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Aortic insufficiency | moderate |
| C-Asc. aortic dilatation | |
| C-Bicuspid aortic valve | |
| L-Spontaneous pneumothorax | bilateral |
| O-Ectopia lentis | |
| O-Flat cornea (<42 dp) (m) | |
| O-Increased axial length of globe (m) | |
| S-Arachnodactyly (M) | |
| S-Arm span/height >1.05 (M) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Plain pes planus (M)(1) | bilateral |
| S-Reduced US/LS ratio <0.87 (M) | |
| S-Repeating twists | |
| S-Scoliosis > 20° (M)(1) | |
| SI-Inguinal hernia | |
| SI-Significant striae atrophicae (m)(1) |
| 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. |