| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS39-1G>A (c.4943-1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl-1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #24 | 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 (%) | |||||
| tttggattatagAT |
| tttggattataaAT |
| -36.3 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0108 I01 | Proband | NA | NA | BELGIUM |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| Reference ID | Reference |
| 122 | Unpublished data |