| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS36+3insT (c.4582+3insT) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+3 | Spl. | insT | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#04 | conserved AA in TGFBP |
| At the mRNA level | On restriction map |
| Skipping of exon 36, in phase | 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 (%) | |||||
| TTGgtaaga |
| TTGgttaag |
| -26.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA09FAR F0005 I01 | Proband | Male | de novo | U.S.A. |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 29 | |
| O-Ectopia lentis | bilateral | 29 |
| S-Arachnodactyly (M) | 29 | |
| S-Dolichostenomelia | 29 |
| Reference ID | PubMed ID | Reference |
| 210 | 11251996 | Toudjarska I, Kilpatrick MW, Lembessis P, Carra S, Harton GL, Sisson ME, Black SH, Stern HJ, Gelman-Kohan Z, Shohat M, Tsipouras P. "Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis". Am J Med Genet. 2001 Apr 1;99(4):294-302. |