| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2462G>A | p.Cys821Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TAC | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #09 | Disulfide bonds 811-821 (C3) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Acc I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI11FUZ F0001 I0001 | Proband | NA | NA | CHINA |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 190 | 20085885 | Chen QQ, Wu YA, Huang XL, Chen T, Huang Y, Chen FL, Chen FW. [Two novel mutations of FBN1 gene in the patients with MFS among Han population]. Yi Chuan. 2010 Jan;32(1):49-53. |