| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS31+1G>A (c.3964+1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl+1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #18 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Skipping of exon 31, in frame | 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 (%) | |||||
| CAGgtgtgt |
| CAGatgtgt |
| -29.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0002 I0775 | Proband | Male | de novo | at birth | 4 months | GERMANY |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Congestive heart failure |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| C-Pulmonary art. dilatation |
| C-Tricuspid valve prolapse |
| CF-Dolichocephaly |
| CF-Down-slanting palpebral fissures |
| O-Ectopia lentis |
| O-Megalocornea |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Chest deformity (unspecified) |
| S-Joint hypermobility (m) |
| S-Joint limitations |
| S-Plain pes planus (M)(1) |
| Reference ID | PubMed ID | Reference |
| 52 | 10189088 | Booms P, Cisler J, Mathews KR, Godfrey M, Tiecke F, Kaufmann UC, Vetter U, Hagemeier C, Robinson PN. "Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome". Clin Genet 1999 Feb;55(2):110-7 . |