| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3463G>A | p.Asp1155Asn | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | AAC | Asn | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #14 | Ca2+ binding | Yes, non coding strand | Yes |
| At the mRNA level | On restriction map |
| Last nucleotide of the exon, no abnormal splicing | New restriction site(s): none Lost restriction site(s): Taq I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA05HOU F0013 I62 | Proband | NA | de novo | ? (44 years old) | U.S.A |
| Phenotypic group | Disease |
| Type IV | Incomplete MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Desc. aortic dissection (thor. or abdo.) | surgery |
| C-Mitral valve prolapse | |
| S-Arm span/height >1.05 (M) | |
| S-High arched palate | |
| S-Joint limitations | |
| S-Pectus excavatum moderate (m)(1) | |
| SI-Inguinal hernia |
| Reference ID | PubMed ID | Reference |
| 34 | 8941093 | Milewicz DM, Michael K, Fisher N, Coselli JS, Markello T, Biddinger A. "Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms". Circulation 1996 Dec 1;94(11):2708-11 . |