| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3212T>G | p.Ile1071Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATT | Ile | AGT | Ser | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Ca2+ binding | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Mae III 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 |
| USA02OMA F0007 I01 | Proband | Female | de novo | Prenatally | 3 months | U.S.A |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| C-Pulmonary valve insufficiency |
| C-Tricuspid valve prolapse |
| L-Spontaneous pneumothorax |
| O-Coloboma |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Chest deformity (unspecified) |
| S-Crumpled ears |
| S-Joint limitations |
| S-Muscular hypotonia |
| S-Scoliosis > 20° (M)(1) |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 38 | 8880577 | Wang M, Kishnani P, Decker-Phillips M, Kahler SG, Chen YT, Godfrey M. "Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome". J Med Genet 1996 Sep;33(9):760-3 . |