| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3110_3122del | p.Ser1037ThrfsX47 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGC | Ser | del13b | Fs. | Stop at 1083 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 |
| At the mRNA level | On restriction map |
| Deletion flanked by direct repeats | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI02CHA F0001 I0001 | Proband | Male | NA | 13 years old | CHINA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Mitral regurgitation |
| O-Ectopia lentis |
| S-Arachnodactyly (M) |
| S-Increased body length |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 112 | 12890380 | Wang B, Hu D, Xia J, Li Q, Yang J, Lu G. "FBN1 mutation in Chinese patients with Marfan syndrome and its gene diagnosis using haplotype linkage analysis". Chin Med J (Engl). 2003 Jul;116(7):1043-6. |