| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7454A>T | p.Asp2485Val | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | GTT | Val | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #39 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| First nucleotide of the exon, cDNA not tested | New restriction site(s): none Lost restriction site(s): Bgl II, Dpn I, Dpn II, Mbo I, Sau3A I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| NET03LEI F0002 I0005 | Relative | Male | familial | TURKEY |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | surgery | 9 |
| C-Mitral valve prolapse | 9 | |
| O-Ectopia lentis | 9 | |
| O-Hypoplastic iris (m) | 9 | |
| S-Characteristic facial appearance | 9 | |
| S-High arched palate | 9 | |
| S-Pectus carinatum (M)(2) | 9 | |
| S-Pectus excavatum moderate (m)(1) | 9 | |
| S-Plain pes planus (M)(1) | 9 |
| Reference ID | PubMed ID | Reference |
| 219 | 20886638 | Hilhorst-Hofstee Y, Rijlaarsdam ME, Scholte AJ, Swart-van den Berg M, Versteegh MI, van der Schoot-van Velzen I, Sch*bitz HJ, Bijlsma EK, Baars MJ, Kerstjens-Frederikse WS, Giltay JC, Hamel BC, Breuning MH, Pals G. "The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family". Hum Mutat. 2010 Dec;31(12):E1915-27. |