| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS44-2A>G (c.5546-2A>G) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl-2 | Spl. | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #27 | 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 (%) | |||||
| tcttatttacagAT |
| tcttatttacggAT |
| -31.9 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD04OXF F0018 I15 | Proband | NA | de novo | ? (30 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 88 | 12161601 | Halliday DJ, Hutchinson S, Lonie L, Hurst JA, Firth H, Handford PA, Wordsworth P. "Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice". J Med Genet 2002, 39: 589-593. |