| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6186delT | p.Tyr2062X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAT | Tyr | del1c | Fs. | Stop at 2062 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#06 | 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 |
| TAI01TAI F0046 I0001 | Proband | NA | NA | TAIWAN |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 183 | 19839986 | Hung CC, Lin SY, Lee CN, Cheng HY, Lin SP, Chen MR, Chen CP, Chang CH, Lin CY, Yu CC, Chiu HH, Cheng WF, Ho HN, Niu DM, Su YN. "Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome". Ann Hum Genet. 2009 Nov;73(Pt 6):559-67. |