| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1995C>G | p.Tyr665X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | TAG | Stop | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#02 | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| POR01POR F0001 I0003 | Relative | Female | familial | PORTUGAL |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 39 | |
| L-Spontaneous pneumothorax | 39 | |
| S-Arachnodactyly (M) | 39 | |
| S-Joint hypermobility (m) | 39 | |
| S-Pectus excavatum moderate (m)(1) | 39 | |
| S-Plain pes planus (M)(1) | 39 | |
| S-Protusio acetabulæ (M)(2) | 39 | |
| S-Scoliosis > 20° (M)(1) | surgery | 39 |
| Reference ID | PubMed ID | Reference |
| 220 | 21194821 | Lebreiro A, Martins E, Almeida J, Pimenta S, Bernardes JM, Machado JC, Abreu-Lima C." Value of molecular diagnosis in a family with Marfan syndrome and an atypical vascular phenotype". Rev Esp Cardiol. 2011 Feb;64(2):151-4. |