| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS42-2A>G (c.5297-2A>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 #25 | 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 (%) | |||||
| ctctgtctctagAT |
| ctctgtctctggAT |
| -34.3 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD07WIL F0044 I0001 | Proband | NA | NA | U.K. |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 157 | 17627385 | Howarth R, Yearwood C, Harvey JF. "Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory". Genet Test. 2007 Summer;11(2):146-52. |