| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS46+1G>A (c.5788+1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #29 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Cryptic splice site used: 33bp insertion | 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 |
| TAGatgcgt |
| -30.5 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD04OXF F0021 I01 | Proband | Male | de novo | 23 years old ? | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Aortic surgery | |
| CF-Down-slanting palpebral fissures | |
| CF-Malar hypoplasia | |
| O-Ectopia lentis | bilateral |
| S-Arachnodactyly (M) | |
| S-Arm span/height >1.05 (M) | |
| S-Chest deformity (unspecified) | |
| S-Crowding teeth (m) | |
| S-High arched palate | |
| S-Kyphosis | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 90 | 11702223 | Hutchinson S, Wordsworth BP, Handford PA. "Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence". Hum Genet. 2001 Oct;109(4):416-20. |