| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4588C>T | p.Arg1530Cys | 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 |
| TGFBP#04 | conserved AA in TGFBP | 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) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA05HOU F0023 I0002 | Relative | Female | familial | MEXICO |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| O-Ectopia lentis | 66 |
| S-Plain pes planus (M)(1) | 66 |
| 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. |