| 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 |
| JAP02TOK F0036 I0001 | Proband | NA | NA | JAPAN |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 229 | 21907952 | Ogawa N, Imai Y, Takahashi Y, Nawata K, Hara K, Nishimura H, Kato M, Takeda N, Kohro T, Morita H, Taketani T, Morota T, Yamazaki T, Goto J, Tsuji S, Takamoto S, Nagai R, Hirata Y. "Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene". Am J Cardiol. 2011 Dec 15;108(12):1801-7. |