| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8006G>T | p.Gly2669Val | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGT | Gly | GTT | Val | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #43 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): BstE II |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.05 (non pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0175 I0214 | Proband | Male | de novo | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dissection | surgery |
| L-Spontaneous pneumothorax | |
| O-Myopia | |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 145 | 19293843 | Stheneur C, Collod-B*roud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. "Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene". Eur J Hum Genet. 2009 Sep;17(9):1121-8. |