| 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 | Yes, coding strand |
| At the mRNA level | On restriction map |
| Skipping of exon 46, in frame | New restriction site(s): BstN I, EcoR II Lost restriction site(s): Hpa II, Msp I |
| 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 |
| USA01BAL F0035 I32 | Proband | Female | NA | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| O-Ectopia lentis |
| S-Incomplete description |
| Reference ID | PubMed ID | Reference |
| 81 | 10874320 | Youil R, Toner TJ, Bull E, Bailey AL, Earl CD, Dietz HC, Montgomery RA. "Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII". Hum Mutat 2000 Jul;16(1):92-3. |