| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.538G>C | p.Asp180His | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | CAT | His | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid module#01 | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| Last nucleotide of the exon, abnormal splicing demonstrated | New restriction site(s): none Lost restriction site(s): none |
| 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 |
| ITA01FLO F0095 I0001 | Proband | Female | familial | ITALIA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Age |
| O-Ectopia lentis | 35 |
| O-Myopia | 35 |
| SI-Significant striae atrophicae (m)(1) | 35 |
| Reference ID | PubMed ID | Reference |
| 192 | 20538085 | Evangelisti L, Lucarini L, Attanasio M, Lapini I, Giusti B, Porciani C, Gensini G, Abbate R, Pepe G. "A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian marfan patients". Eur J Med Genet. 2010 Sep-Oct;53(5):299-302. |