| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2980G>T | p.Glu994X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | TAG | Stop | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#03 | conserved AA in TGFBP | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Rma I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0018 I02 | Proband | Male | de novo | at 26 years old | FINLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| O-Ectopia lentis |
| S-Arachnodactyly (M) |
| S-Increased body length |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 48 | 9452033 | Karttunen L, Ukkonen T, Kainulainen K, Syv*nen A-C, Peltonen L. "Two novel Fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotype". Hum M.utat 1998; Suppl 1(6):S34-37 . |