| 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 |
| CHI05HAN F0008 I0001 | Proband | Male | NA | CHINA |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Severity | Age |
| C-Cardiac malformation | Atrial septal defect | 31 |
| O-Blindness | left | 15 |
| O-Ectopia lentis | bilateral | 31 |
| O-Retinal detachment | 31 | |
| S-Arachnodactyly (M) | 31 | |
| S-Pectus carinatum (M)(2) | mild | 31 |
| Reference ID | PubMed ID | Reference |
| 177 | 19089573 | Jin C, Yao K, Sun Z, Wu R. "Correlation of the recurrent FBN1 mutation (c.364C>T) with a unique phenotype in a Chinese patient with Marfan syndrome". Jpn J Ophthalmol. 2008 Nov-Dec;52(6):497-9. |