| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3037G>A | p.Gly1013Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGA | Gly | AGA | Arg | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#03 | conserved AA in TGFBP | Yes, non coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Hpa II, Msp I |
| 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 |
| GER01BER F0004 I60 | Proband | Female | de novo | first year of life | GERMANY |
| Phenotypic group | Disease |
| NA | Infantil MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | surgery |
| C-Mitral regurgitation | surgery |
| CF-Dolichocephaly | |
| O-Ectopia lentis | |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-Characteristic facial appearance | |
| S-High arched palate | |
| S-Increased body length | |
| S-Joint hypermobility (m) | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 80 | 11175294 | Tiecke F, Katzke S, Booms P, Robinson P, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, H*vels-GŸrich H, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. "Classic , early-onset severe and neonatal Marfan syndrome : Thirteen mutations and genotype-phenotype correlations in FBN1 exons 24-40". Eur J Hum Genet 2001, 9:13-21. |