| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS46+1G>T (c.5788+1G>T) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+1 | Spl. | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #29 | 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 (%) | |||||
| TAGgtgcgt |
| TAGttgcgt |
| -30.5 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CAN01TOR F0008 I0001 | Proband | NA | NA | CANADA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Mitral valve prolapse | 19 | |
| O-Ectopia lentis | bilateral | 19 |
| Reference ID | PubMed ID | Reference |
| 264 | 16476890 | Ganesh A, Smith C, Chan W, Unger S, Quercia N, Godfrey M, Kraft S, Buncic R, Levin A. "Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome". Arch Ophthalmol. 2006 Feb;124(2):205-9. |