| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3668G>A | p.Cys1223Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #15 | Disulfide bonds 1223-1236 (C5) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD02OXF F0002 I2521 | Proband | Female | de novo | ? (66 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Incomplete description | |
| O-Ectopia lentis | bilateral |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 20 | 8071963 | Hewett DR, Lynch JR, Child A, Sykes BC. "A new missense mutation of fibrillin in a patient with Marfan syndrome". J Med Genet 1994 Apr;31(4):338-9 . |