| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6380A>T | p.Asp2127Val | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | GTT | Val | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #32 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| First nucleotide of the exon, cDNA not tested | 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 |
| ITA01FLO F0097 I0001 | Proband | Male | familial | ? (53 years old) | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 53 | |
| C-Mitral regurgitation | mild | 53 |
| C-Mitral valve prolapse | 53 | |
| O-Ectopia lentis | 53 | |
| O-Myopia | 53 | |
| S-Arachnodactyly (M) | 53 | |
| S-Arm span/height >1.05 (M) | 53 | |
| S-Crowding teeth (m) | 53 | |
| S-High arched palate | 53 | |
| S-Pectus excavatum moderate (m)(1) | 53 | |
| S-Reduced extension of the elbows (<170°)(M)(1) | 53 | |
| S-Reduced US/LS ratio <0.87 (M) | 53 | |
| S-Scoliosis > 20° (M)(1) | 53 | |
| SI-Inguinal hernia | 53 |
| Reference ID | PubMed ID | Reference |
| 192 | 20538085 | Evangelisti L, Lucarini L, Attanasio M, Lapini I, Giusti B, Porciani C, Gensini G, Abbate R, Pepe G. "A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian marfan patients". Eur J Med Genet. 2010 Sep-Oct;53(5):299-302. |