| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4046dup | p.Ser1349ArgfsX12 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGC | Ser | ins1c | Fs. | Stop at 1360 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #18 | Ca2+ binding |
| At the mRNA level | On restriction map |
| One base duplication | 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 F0418 I0456 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| 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. |