| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS2+1G>A (c.247+1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCC | Pro | spl+1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #01 |
| At the mRNA level | On restriction map |
| Skipping of exon 2, frameshift | 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 (%) | |||||
| TCCgtaagt |
| TCCataagt |
| -32.6 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA05HOU F0015 I01 | Proband | Male | de novo | 26 years old | U.S.A |
| Phenotypic group | Disease |
| Type II | Classical MFS |
| Symptom |
| C-Asc. aortic dissection |
| C-Desc. aortic dilatation (thor or abdo) |
| O-Myopia |
| S-Crowding teeth (m) |
| S-High arched palate |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Pectus carinatum (M)(2) |
| Reference ID | PubMed ID | Reference |
| 99 | 11391655 | Guo D, Tan FK, Cantu A, Plon SE, Milewicz DM. "FBN1 exon 2 splicing error in a patient with Marfan syndrome". Am J Med Genet. 2001 Jun 15;101(2):130-4. |