| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6339T>G | p.Tyr2113X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAT | Tyr | TAG | Stop | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#06 | No | No |
| At the mRNA level | On restriction map |
| Mutant transcript level undetectable | New restriction site(s): Bsu36 I, Dde I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA01BAL F0011 I07 | Proband | NA | de novo | ? | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 5 | 8430317 | Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR. "The skipping of constitutive exons in vivo induced by nonsense mutations". Science 1993 Jan 29;259(5095):680-3 . |