| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS47-1G>C (c.5918-1G>C) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl-1 | Spl. | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #30 | 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 (%) | |||||
| ttttctttgcagAT |
| ttttctttgcacAT |
| -30.4 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD05LON F0165 I01 | Proband | NA | NA | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 96 | 17657824 | Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A. "The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations". Hum Mutat. 2007 Sep;28(9):928. |