| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS25+5G>T (c.3208+5G>T) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl+5 | Spl. | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Skipping of exon 25, 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 (%) | |||||
| CAGgtcagt |
| CAGgtcatt |
| -13 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0005 I01 | Proband | Female | de novo | at echocardiography | 12 hours | FINLAND |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Congestive heart failure |
| C-Mitral regurgitation |
| O-Cataract |
| S-Arachnodactyly (M) |
| S-Dolichostenomelia |
| Reference ID | PubMed ID | Reference |
| 10 | 8136837 | Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. "Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome". Nat Genet 1994 Jan;6(1):64-9 . |