| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.144_145delAG | p.Gly49ThrfsX5 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGA | Gly | del2c | Fs. | Stop at 53 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NH2 unique region |
| At the mRNA level | On restriction map |
| Deletion flanked by direct repeats | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA01FLO F0010 I01 | Proband | NA | familial | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 3 |
| S-Pectus excavatum severe | 3 |
| S-Scoliosis > 20° (M)(1) | 3 |
| Reference ID | PubMed ID | Reference |
| 146 | 18435798 | Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani MC, Fattori R, Anichini C, Abbate R, Gensini GF, Pepe G. "FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations". Clin Genet. 2008 Jul;74(1):39-46. |