| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS20+53T>A (c.2539+53T>A) | Heterozygous | Polymorphism? |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | spl+53 | Spl. | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid motif #02 |
| At the mRNA level | On restriction map |
| Not tested on cDNA (needed) | 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 (%) | |||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA08PIT F0003 I01 | Proband | NA | NA | ? | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 49 | 10533071 | Yuan B, Thomas JP, von Kodolitsch Y, Pyeritz RE. "Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1". Hum Mutat 1999;14(5):440-6 . |