| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2820_2823delAATG | p.Met941LeufsX19 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGA | Gly | del4c | Fs. | Stop at 959 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #10 | conserved AA in cbEGF-like |
| 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 |
| JAP05YON F0002 I0001 | Proband | Male | familial | 45 years old | JAPAN |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Pectus excavatum moderate (m)(1) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 79 | 10721679 | Chikumi H, Yamamoto T, Ohta Y, Nanba E, Nagata K, Ninomiya H, Narasaki K, Katoh T, Hisatome I, Ono K, Tanaka Y, Kuroda H, Ohgi S. "Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome". J Hum Genet 2000;45(2):115-8. |