| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS31-2A>G (c.3965-2A>G) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl-2 | Spl. | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #18 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Not tested on cDNA | New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| tcatttttccagAC |
| tcatttttccggAC |
| -32.4 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0185 I0224 | Proband | Male | de novo | U.S.A. |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 0,25 |
| CF-Down-slanting palpebral fissures | 0,25 |
| L-Pulmonary emphysema | 0,25 |
| L-Tracheobronchomalacia | 0,25 |
| OS-Cryptorchidism | 0,25 |
| S-Abnormal ears | |
| S-Arachnodactyly (M) | |
| S-High arched palate | |
| S-Increased body length | |
| S-Joint hypermobility (m) | 0,25 |
| S-Joint limitations | |
| S-Pectus excavatum moderate (m)(1) | 0,25 |
| S-Plain pes planus (M)(1) | 0,25 |
| S-Scoliosis > 20° (M)(1) | 0,25 |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 137 | 15666366 | Shinawi M, Boileau C, Brik R, Mandel H, Bentur L. "Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia". Pediatr Pulmonol. 2005 Apr;39(4):374-8. |