| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.386G>A | p.Cys129Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TAC | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #02 | Disulfide bonds 119-129 (C3) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Fnu4H I, Pst I |
| 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 |
| USA01BAL F0013 I01 | Proband | NA | de novo | at birth | U.S.A |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| CF-Down-slanting palpebral fissures |
| L-Spontaneous pneumothorax |
| O-Ectopia lentis |
| O-Retinal detachment |
| S-Joint limitations |
| S-Pectus excavatum moderate (m)(1) |
| SI-Inguinal hernia |
| Reference ID | PubMed ID | Reference |
| 21 | 7611299 | Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. "Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons". Am J Hum Genet 1995 Jul;57(1):8-21 . |