| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8547T>G | p.Tyr2849X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAT | Tyr | TAG | Stop | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif | No | 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 |
| CHI08BEI F0002 I0001 | Proband | Male | familial | CHINA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Age |
| C-Aortic insufficiency | 56 |
| C-Asc. aortic dilatation | 56 |
| S-Arachnodactyly (M) | 56 |
| S-Arm span/height >1.05 (M) | 56 |
| Reference ID | PubMed ID | Reference |
| 217 | 21034599 | Gao LG, Zhang L, Song L, Wang H, Chang Q, Wu YB, Hui RT, Zhou XL. "Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype". Chin Med J (Engl). 2010 Oct;123(20):2874-8. |