| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7649G>A | p.Cys2550Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #40 | Disulfide bonds 2535-2550 (C4) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS01VIE F0011 I0001 | Proband | Male | familial | AUSTRIA |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Age |
| S-Arachnodactyly (M) | 22 |
| S-Pectus excavatum moderate (m)(1) | 22 |
| S-Scoliosis > 20° (M)(1) | 22 |
| SI-Significant striae atrophicae (m)(1) | 22 |
| 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] |