| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5559delT | p.Gln1854LysfsX39 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | del1c | Fs. | Stop at 1892 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #27 | Disulfide bonds 1853-1865 (C1) |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| NOR01OSL F0023 I0001 | Proband | NA | NA | NORWAY |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 148 | 17253931 | Tjeldhorn L, Rand-Hendriksen S, Gervin K, Brandal K, Inderhaug E, Geiran O, Paus B. "Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy". Genet Test. 2006 Winter;10(4):258-64. |