| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1545C>G | p.Cys515Trp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGG | Trp | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #03 | Disulfide bonds 515-528 (C5) | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): BsiY I 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 |
| USA05HOU F0024 I0002 | Relative | Female | familial | MEXICO |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Age |
| O-Ectopia lentis | 50 |
| S-Characteristic facial appearance | 50 |
| S-High arched palate | 50 |
| S-Reduced US/LS ratio <0.87 (M) | 50 |
| Reference ID | PubMed ID | Reference |
| 194 | 19941982 | Villamizar C, Regalado ES, Fadulu VT, Hasham SN, Gupta P, Willing MC, Kuang SQ, Guo D, Muilenburg A, Yee RW, Fan Y, Towbin J, Coselli JS, LeMaire SA, Milewicz DM. "Paucity of skeletal manifestations in Hispanic families with FBN1 mutations". Eur J Med Genet. 2010 Mar-Apr;53(2):80-4. |