| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7240C>T | p.Arg2414X | 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 |
| cb EGF-like #37 | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): BsiY I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA04NOR F0007 I1605 | Proband | NA | de novo | Unknown | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 101 | 11826022 | Korkko J, Kaitila I, Lonnqvist L, Peltonen L, Ala-Kokko L. "Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions". J Med Genet. 2002 Jan;39(1):34-41. |