| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4270C>G | p.Pro1424Ala | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCA | Pro | GCA | Ala | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #20 | Ca2+ binding | Yes, coding strand | No |
| 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 | 0.25 (non pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS01NAD F0008 I01 | Proband | Male | familial | ? (2,5 years old) | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Severity |
| O-Divergent strabismus | |
| O-Myopia | early |
| S-Arachnodactyly (M) | |
| S-Characteristic facial appearance | |
| S-Joint hypermobility (m) |
| Reference ID | PubMed ID | Reference |
| 114 | 14695540 | Biggin A, Holman K, Brett M, Bennetts B, Ades L. "Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy". Hum Mutat. 2004 Jan;23(1):99. |