| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7456_7821del | p.Leu2486_Asp2607del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTT | Leu | del366a | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #39 | Ca2+ binding |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0001 I01 | Proband | Male | familial | ? (48 years old) | FINLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| S-High arched palate |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Reduced US/LS ratio <0.87 (M) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 9 | 1631074 | Kainulainen K, Sakai LY, Child A, Pope FM, Puhakka L, Ryhanen L, Palotie A, Kaitila I, Peltonen L. "Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides". Proc Natl Acad Sci U S A 1992 Jul 1;89(13):5917-21 . |