| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS24+1G>T (c.3082+1G>T) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+1 | Spl. | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | Ca2+ binding |
| 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 (%) | |||||
| AAGgtacaa |
| AAGttacaa |
| -35.4 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0006 I54 | Proband | Male | de novo | ? (33 years old) | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | surgery |
| O-Ectopia lentis | |
| S-Arachnodactyly (M) | |
| S-Chest deformity (unspecified) | |
| S-Increased body length | |
| S-Scoliosis > 20° (M)(1) | |
| SI-Significant striae atrophicae (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. |