| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4615C>T | p.Arg1539X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#04 | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Taq I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0013 I27 | Proband | Male | familial | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Asc. aortic dissection | surgery |
| CF-Dolichocephaly | |
| L-Spontaneous pneumothorax | |
| O-Ectopia lentis | |
| O-Myopia | |
| S-Chest deformity (unspecified) | |
| S-High arched palate |
| Reference ID | PubMed ID | Reference |
| 80 | 11175294 | Tiecke F, Katzke S, Booms P, Robinson P, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, H*vels-GŸrich H, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. "Classic , early-onset severe and neonatal Marfan syndrome : Thirteen mutations and genotype-phenotype correlations in FBN1 exons 24-40". Eur J Hum Genet 2001, 9:13-21. |