| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7667_7692del | p.Phe2556LeufsX2 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTC | Phe | del26b | Fs. | Stop at 2557 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #40 | conserved AA in cbEGF-like |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0267 I0306 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Bicuspid aortic valve | |
| C-Mitral valve prolapse | |
| CF-Dolichocephaly | |
| CF-Malar hypoplasia | |
| O-Hypoplastic iris (m) | |
| O-Myopia | |
| O-Strabismus | surgery |
| S-Arm span/height >1.05 (M) | |
| S-Joint hypermobility (m) | |
| S-Pectus carinatum (M)(2) | |
| S-Plain pes planus (M)(1) | |
| S-Protusio acetabulæ (M)(2) | |
| S-Reduced US/LS ratio <0.87 (M) | |
| S-Scoliosis > 20° (M)(1) | |
| SI-Other herniae | inguino-scrotale |
| 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. |