| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3519C>G | p.Asn1173Lys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | AAG | Lys | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #14 | Ca2+ binding | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Alu I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD01EDI F0009 I01 | Proband | Male | familial | ? (44 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Chest deformity (unspecified) |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Joint limitations |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 41 | 9338581 | Hayward C, Porteous ME, Brock DJ. "Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations". Hum Mutat 1997;10(4):280-9 . |