| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4621C>T | p.Arg1541X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#04 | RGD | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): PaeR7 I, Taq I, Xho I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD06GLA F0001 I01 | Proband | Female | NA | 38 years old (18 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS + |
| Symptom | Severity |
| C-Mitral regurgitation | surgery |
| C-Mitral valve prolapse | |
| S-Arachnodactyly (M) | |
| S-Characteristic facial appearance | |
| S-High arched palate | |
| S-Pectus carinatum (M)(2) | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 113 | 1270030 | Behan WM, Longman C, Petty RK, Comeglio P, Child AH, Boxer M, Foskett P, Harriman DG. "Muscle fibrillin deficiency in Marfan's syndrome myopathy". J Neurol Neurosurg Psychiatry. 2003 May;74(5):633-8. |