| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS33+2T>C (c.4210+2T>C) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl+2 | Spl. | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #20 | Ca2+ binding |
| 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 (%) | |||||
| CAGgtatgt |
| CAGgcatgt |
| -29.4 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA04NOR F0015 I3477 | Proband | Male | NA | Unknown | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| C-Tricuspid valve prolapse |
| O-Ectopia lentis |
| S-Chest deformity (unspecified) |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Plain pes planus (M)(1) |
| Reference ID | PubMed ID | Reference |
| 102 | - | Hyland JC (Personal communication 2003). |