| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6423delG | p.Gln2141HisfsX19 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | del1c | Fs. | Stop at 2159 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #32 | Yes, coding strand |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): Alu I, Ban II, Bsp1286 I, Ecl136 I, HgiA I, Sac I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA03STA F0081 I939 | Proband | NA | familial | ? (64 years old) | U.S.A |
| Phenotypic group | Disease |
| Type II | Classical MFS |
| Symptom | Severity |
| S-Crowding teeth (m) | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Joint limitations | |
| S-Scoliosis > 20° (M)(1) | |
| SI-Other herniae | Hiatal |
| Reference ID | PubMed ID | Reference |
| 104 | 12068374 | Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U. "Premature termination mutations in FBN1: Distinct effects on Differencial allelic expression and on protein and clinical phenotypes". Am J Hum Genet, 2002, 71: 223-237. |