| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.364C>T | p.Arg122Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGC | Arg | TGC | Cys | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #02 | Yes, coding strand | Yes |
| 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 |
| FIN01HEL F0014 I01 | Proband | Male | familial | ? (21 years old) | FINLAND |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| O-Ectopia lentis |
| O-Spherophakia |
| S-Joint dislocation |
| Reference ID | PubMed ID | Reference |
| 18 | 8040326 | Stahl-Hallengren C, Ukkonen T, Kainulainen K, Kristofersson U, Saxne T, Tornqvist K, Peltonen L. "An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome". J Clin Invest 1994 Aug;94(2):709-13 . |