| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS40+2T>G (c.5065+2T>G) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+2 | Spl. | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#05 | conserved AA in TGFBP |
| 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 (%) | |||||
| TGGgtaagt |
| TGGggaagt |
| -28.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| NET05GRO F0042 I0001 | Proband | NA | NA | NETHERLAND |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 272 | 24161884 | Aalberts JJ, Tintelen JP, Meijboom LJ, Polko A, Jongbloed JD, van der Wal H, Pals G, Osinga J, Timmermans J, de Backer J, Bakker MK, van Veldhuisen DJ, Hofstra RM, Mulder BJ, van den Berg MP. "Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome". Gene. 2014 Jan 15;534(1):40-3. |