| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1354delT | p.Tyr452ThrfsX127 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | del1a | Fs. | Stop at 578 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #04 |
| At the mRNA level | On restriction map |
| Deletion in a stretch of nucleotides | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD07WIL F0007 I0001 | Proband | Female | NA | ? (45 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Severity | Age |
| C-Mitral regurgitation | surgery | 45 |
| O-Ectopia lentis | 45 | |
| S-Incomplete description | 45 | |
| SI-Incomplete description | 45 |
| Reference ID | PubMed ID | Reference |
| 157 | 17627385 | Howarth R, Yearwood C, Harvey JF. "Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory". Genet Test. 2007 Summer;11(2):146-52. |