| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3037G>A | p.Gly1013Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGA | Gly | AGA | Arg | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#03 | conserved AA in TGFBP | Yes, non coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Hpa II, Msp I |
| 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 |
| CHI01HKO F0001 I0001 | Proband | Male | NA | 1 year old | CHINA |
| Phenotypic group | Disease |
| NA | Infantil MFS |
| Symptom | Severity | Age |
| C-Aortic insufficiency | 1 | |
| C-Congestive heart failure | 1,33 | |
| C-Mitral regurgitation | surgery | 1 |
| C-Pulmonary annulus dilatation | 1 | |
| S-Arachnodactyly (M) | 1 | |
| S-Arm span/height >1.05 (M) | 1 | |
| S-High arched palate | 1 | |
| S-Increased body length | 1 | |
| S-Joint hypermobility (m) | 1 | |
| S-Scoliosis > 20° (M)(1) | 1 |
| Reference ID | PubMed ID | Reference |
| 94 | 11780406 | Lo IF, Wong RM, Lam FW, Tong TM, Lam ST. "Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome". Chin Med J (Engl). 2001 May;114(5):473-6. |