| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3209A>G | p.Asp1070Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | GGC | Gly | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| First nucleotide of the exon, no abnormal splicing | New restriction site(s): none 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 F0189 I0228 | Proband | Male | de novo | FRANCE |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Aortic insufficiency | |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | |
| CF-Dolichocephaly | |
| O-Glaucoma | |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-Arm span/height >1.05 (M) | |
| S-Characteristic facial appearance | |
| S-Foot deformity | |
| S-High arched palate | |
| S-Increased body length | |
| S-Joint limitations | |
| S-Pectus excavatum moderate (m)(1) | |
| S-Plain pes planus (M)(1) | |
| S-Scoliosis > 20° (M)(1) | |
| SI-Inguinal hernia | bilateral |
| SI-Loose, redundant skin |
| 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. |