| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS46+5G>A (c.5788+5G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+5 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #29 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Skipping of exon 46, in frame | 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 (%) | |||||
| TAGgtgcgt |
| TAGgtgcat |
| -13.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA04NOR F0019 I3459 | Proband | Male | de novo | Unknown | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Aortic insufficiency | |
| C-Asc. aortic dilatation | |
| O-Ectopia lentis | bilateral |
| S-Arachnodactyly (M) | |
| S-High arched palate | |
| S-Increased body length |
| Reference ID | PubMed ID | Reference |
| 102 | - | Hyland JC (Personal communication 2003). |