| 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 |
| UKD03DUN F0001 I01 | Proband | Male | familial | ? (58 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| O-Retinal detachment |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Chest deformity (unspecified) |
| S-High arched palate |
| S-Scoliosis > 20° (M)(1) |
| SI-Inguinal hernia |
| Reference ID | PubMed ID | Reference |
| 37 | 9452085 | Black C, Withers AP, Gray JR, Bridges AB, Craig A, Baty DU, Boxer M. "Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype". Hum Mutat 1998;Suppl 1(6):S198-200 . |