| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2251_2257del | p.Asn751AspfsX19 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAT | Asn | del7a | Fs. | Stop at 769 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #07 |
| 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 |
| KOR01SEO F0002 I01 | Proband | Male | de novo | (20 years old) | S. KOREA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity | Age |
| C-Cardiac malformation | Atrial septal defect | 20 |
| C-Mitral regurgitation | 20 | |
| S-Arachnodactyly (M) | 20 | |
| S-Increased body length | 20 |
| Reference ID | PubMed ID | Reference |
| 100 | 11059536 | Oh MR, Kim JS, Beck NS, Yoo HW, Lee HJ, Kohsaka T, Jin DK. "Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome". Pediatr Int. 2000 Oct;42(5):488-91. |