| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3337G>A | p.Asp1113Asn | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | AAT | Asn | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #13 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| Last nucleotide of the exon, cDNA not tested | New restriction site(s): Ssp I Lost restriction site(s): none |
| 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 |
| UKD09SAL F0015 I0001 | Proband | NA | NA | U.K. |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 242 | 21895641 | Robinson DO, Lin F, Lyon M, Raponi M, Cross E, White HE, Cox H, Clayton-Smith J, Baralle D. "Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities". Clin Genet. 2012 Sep;82(3):223-31. |