| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS40+1G>A (c.5065+1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#05 | conserved AA in TGFBP |
| 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 (%) | |||||
| TGGgtaagt |
| TGGataagt |
| -28.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER03HAN F0080 I0020 | Proband | NA | NA | GERMANY |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 182 | 19159394 | S*ylen B, Singh KK, Abuzainin A, Rommel K, Becker H, Arslan-Kirchner M, Schmidtke J. "Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations". Clin Genet. 2009 Mar;75(3):265-70. |