| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS46+5G>A (c.5788+5G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+5 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #29 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Skipping of exon 46, 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 (%) | |||||
| TAGgtgcgt |
| TAGgtgcat |
| -13.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| NOR01OSL F0043 I0001 | Proband | NA | NA | NORWAY |
| Phenotypic group | Disease |
| NA | Unknown |
| 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. |