| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3143T>C | p.Ile1048Thr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATT | Ile | ACT | Thr | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | Ca2+ binding | Yes, coding strand | No |
| 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0015 I01 | Proband | Male | de novo | at birth | 4 months | FINLAND |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Aortic insufficiency | |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | |
| S-Arachnodactyly (M) | severe |
| SI-Inguinal hernia | bilateral |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 33 | 8884270 | Lonnqvist L, Karttunen L, Rantamaki T, Kielty C, Raghunath M, Peltonen L. "A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome". Genomics 1996 Sep 15;36(3):468-75 . |