| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS27+1G>A (c.3463+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 #14 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Insertion of 111bp (intron 27) | 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 (%) | |||||
| TCGgtaagg |
| TCGataagg |
| -29.4 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0019 I01 | Proband | Male | de novo | at 5 years old | FINLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Chest deformity (unspecified) |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 48 | 9452033 | Karttunen L, Ukkonen T, Kainulainen K, Syv*nen A-C, Peltonen L. "Two novel Fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotype". Hum M.utat 1998; Suppl 1(6):S34-37 . |