| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS50+4insT (c.6313+4insT) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | spl+4 | Spl. | insT | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#06 |
| At the mRNA level | On restriction map |
| Not tested on cDNA | New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| ATGgtatgt |
| ATGgtattg |
| -16.7 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS01VIE F0008 I0001 | Proband | Female | NA | AUSTRIA |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Age |
| S-Arachnodactyly (M) | 22 |
| S-Characteristic facial appearance | 22 |
| S-Plain pes planus (M)(1) | 22 |
| S-Scoliosis > 20° (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] |