| 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 F0365 I0403 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 145 | 19293843 | Stheneur C, Collod-B*roud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. "Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene". Eur J Hum Genet. 2009 Sep;17(9):1121-8. |