| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7606G>A | p.Gly2536Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGG | Gly | AGG | Arg | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #40 | Ca2+ binding | Yes, non coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD05LON F0005 I24 | Proband | Female | familial | 46 years old | U.K. |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| L-Pulmonary emphysema |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Chondromalacia Patellae |
| S-Joint hypermobility (m) |
| S-Kyphosis |
| S-Plain pes planus (M)(1) |
| S-Reduced US/LS ratio <0.87 (M) |
| SI-Tendency to ecchymosis |
| SI-Varicose veins |
| SI-Varicose veins |
| Reference ID | PubMed ID | Reference |
| 83 | 11748851 | Comeglio P, Evans AL, Brice GW and Child AH. "Detection of six novel FBN1 mutations in british patients affected by Marfan syndrome". Human Mutation, 2001, 18(6): 546-7. |