| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8038C>T | p.Arg2680Cys | 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 |
| cb EGF-like #43 | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA05HOU F0004 I01 | Proband | Male | familial | ? (16 years old) | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| L-Spontaneous pneumothorax |
| O-Ectopia lentis |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Dolichostenomelia |
| S-Long bone over growth |
| S-Reduced US/LS ratio <0.87 (M) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 24 | - | Grossfield J, Cao S; Milewicz DM. "Characterization of mutations involving the carboxy-terminal domain of fibrillin-1 indicates a role of this domain in secretion in dermal fibroblasts". Am J Hum Genet 1993, 53 abstract 1167 . |