| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3760T>C | p.Cys1254Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | CGC | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #16 | Disulfide bonds 1242-1254 (C3) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Hha I, HinP I Lost restriction site(s): ApaL 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 |
| AUS01VIE F0006 I0001 | Proband | Female | NA | AUSTRIA |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Age |
| S-Arachnodactyly (M) | 5 |
| S-Characteristic facial appearance | 5 |
| S-Increased body length | 5 |
| S-Plain pes planus (M)(1) | 5 |
| Reference ID | PubMed ID | Reference |
| 271 | 24199744 | Pees C, Michel-Behnke I, Hagl M, Laccone F. "Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys Dietz syndrome and phenotype-genotype correlations". Clin Genet. 2013 Nov 6. doi: 10.1111/cge.12314. [Epub ahead of print] |