| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8268G>A | p.Trp2756X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGG | Trp | TGA | Stop | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0002 I01 | Proband | Male | de novo | FINLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Aortic insufficiency | surgery |
| C-Asc. aortic dilatation | surgery |
| O-Cataract | |
| O-Ectopia lentis | |
| O-Retinal ablation | |
| S-Arachnodactyly (M) | |
| S-Long bone over growth | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 9 | 1631074 | Kainulainen K, Sakai LY, Child A, Pope FM, Puhakka L, Ryhanen L, Palotie A, Kaitila I, Peltonen L. "Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides". Proc Natl Acad Sci U S A 1992 Jul 1;89(13):5917-21 . |