| 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 F0005 I01 | Proband | NA | de novo | ? (8 years old) | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| O-Iridodonesis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Characteristic facial appearance |
| S-Chest deformity (unspecified) |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Long bone over growth |
| S-Reduced US/LS ratio <0.87 (M) |
| Reference ID | PubMed ID | Reference |
| 24 | - | Grossfield J, Cao S; Milewicz DM. "Characterization of mutations involving the carboxy-terminal domain of fibrillin-1 indicates a role of this domain in secretion in dermal fibroblasts". Am J Hum Genet 1993, 53 abstract 1167 . |