| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2855_3337del | p.Ile953_Asp1113del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | del483b | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#03 | conserved AA in TGFBP |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER06TUB F0001 I0001 | Proband | NA | NA | 0 | 0 | GERMANY |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 258 | 20455198 | Apitz C, Mackensen-Haen S, Girisch M, Kerst G, Wiegand G, Stuhrmann M, Niethammer K, Behrwind G, Hofbeck M. "Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis". Klin Padiatr. 2010 Jul;222(4):261-3. |