| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8222T>C | p.Ile2741Thr | Heterozygous | Polymorphism |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATC | Ile | ACC | Thr | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Taq I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.33 | 0.41 (non pathogenous) | 76 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA22DAL F0002 I0001 | Proband | Female | NA | 10 | U.S.A. |
| Phenotypic group | Disease |
| NA | Marfanoid Neonatal Progeroid Syndrome |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 17 | |
| C-Mitral valve prolapse | 17 | |
| CF-Down-slanting palpebral fissures | 10 | |
| CF-Proptosis | 17 | |
| CF-Retrognathia | 17 | |
| O-Astigmatism | 10 | |
| O-Iridodonesis | 17 | |
| O-Myopia >3 diopters (1) | 10 | |
| O-Strabismus | mild | 17 |
| S-Arachnodactyly (M) | 17 | |
| S-Joint hypermobility (m) | 17 | |
| S-Joint limitations | ankle, knee and elbow | 10 |
| S-Pectus excavatum moderate (m)(1) | 17 | |
| S-Plain pes planus (M)(1) | 17 | |
| S-Reduced extension of the elbows (<170°)(M)(1) | 17 | |
| S-Reduced US/LS ratio <0.87 (M) | 17 | |
| S-Scoliosis > 20° (M)(1) | 17 | |
| Se-Hearing loss | mild | 17 |
| Reference ID | PubMed ID | Reference |
| 283 | 24665001 | Garg A, Xing C. "De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy". Am J Med Genet A. 2014 May;164(5):1341-5. |