| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3221G>A | p.Cys1074Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TAC | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Disulfide bonds 1074-1086 (C1) | 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 |
| UKD05LON F0023 I01 | Proband | NA | NA | U.K. |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Congestive heart failure | |
| C-Mitral regurgitation | |
| O-Cataract | |
| O-Ectopia lentis | possible |
| O-Glaucoma | |
| S-Abnormal ears | |
| S-Arachnodactyly (M) | |
| S-Joint limitations |
| Reference ID | PubMed ID | Reference |
| 109 | 12575662 | Comeglio P, Evans AL, Brice GW, Anderlid BM, Child AH. "Gene symbol: FBN1. Disease: Marfan syndrome". Hum Genet. 2003 Jan;112(1):104. |