| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3128A>G | p.Lys1043Arg | Heterozygous | Polymorphism? |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | AGG | Arg | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| Not tested on cDNA (needed) | New restriction site(s): BsiY I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.40 (non pathogenous) | 35 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA02OMA F0004 I324 | Proband | Male | de novo | at birth | 2 years old | U.S.A |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Mitral valve prolapse | surgery |
| L-Pulmonary emphysema | |
| S-Arachnodactyly (M) | |
| S-Crumpled ears | |
| S-High arched palate | |
| S-Increased body length | |
| S-Joint limitations | |
| S-Muscular hypotonia | |
| S-Scoliosis > 20° (M)(1) | |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 35 | 9101298 | Wang M, Wang JY, Cisler J, Imaizumi K, Burton BK, Jones MC, Lamberti JJ, Godfrey M. "Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome". Hum Mutat 1997;9(4):359-62 . |