| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS63-2A>G (c.8052-2A>G) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGG | Gly | spl-2 | Spl. | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #43 |
| At the mRNA level | On restriction map |
| Skipping of exon 64, 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 (%) | |||||
| cttctgctgcagGC |
| cttctgctgcggGC |
| -31.2 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA05HOU F0016 I01 | Proband | Female | de novo | U.S.A. |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| O-Microcornea |
| S-Arachnodactyly (M) |
| S-High arched palate |
| S-Increased body length |
| S-Joint hypermobility (m) |
| Reference ID | PubMed ID | Reference |
| 120 | 12695261 | Vital MC, Mintz-Hittner HA, Milewicz DM. "Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome". Arch Ophthalmol. 2003 Apr;121(4):579-81. |