| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6554T>C | p.Ile2185Thr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATT | Ile | ACT | Thr | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #33 | Ca2+ binding | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Mae III Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.08 (non pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD05LON F0173 I01 | Proband | NA | NA | U.K. |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Age |
| C-Dilation or dissection of asc. aorta | 36 |
| Reference ID | PubMed ID | Reference |
| 96 | 17657824 | Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A. "The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations". Hum Mutat. 2007 Sep;28(9):928. |