| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS56-2A>G (c.6998-2A>G) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl-2 | Spl. | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP #07 | conserved AA in TGFBP |
| At the mRNA level | On restriction map |
| Deletion of 12bp (exon 57) | 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 (%) | |||||
| tgtcccttccagAC |
| tgtcccttccggAC |
| -32 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0740 I0777 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 207 | - | Boileau C. (personnal communication 2013) |