| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS2-3C>G (c.248-3C>G) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCC | Pro | spl-3 | Spl. | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #01 |
| At the mRNA level | On restriction map |
| Not tested on cDNA | New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| gtttattcacagCC |
| gtttattcagagCC |
| -11.9 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0067 I1314 | Proband | Female | familial | 22 years old | BELGIUM |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| O-Ectopia lentis |
| S-Arachnodactyly (M) |
| S-Chest deformity (unspecified) |
| S-Joint hypermobility (m) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 89 | 11700157 | Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. "Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome". Arch Intern Med. 2001 Nov 12;161(20):2447-54. |