| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS11+5G>A (c.1468+5G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+5 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #03 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Skipping of exon 11, frameshift | 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 (%) | |||||
| TTGgtacgt |
| TTGgtacat |
| -14.4 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| NET01AMS F0008 I0001 | Proband | Female | familial | NETHERLAND |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Age |
| O-Cataract | |
| O-Myopia | |
| S-High arched palate | 8 |
| S-Joint hypermobility (m) | 8 |
| S-Plain pes planus (M)(1) | 8 |
| SI-Other herniae | |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 212 | 19949477 | Vis JC, van Engelen K, Timmermans J, Hamel BC, Mulder BJ. "Marfan syndrome masked by Down syndrome?" Neth Heart J. 2009 Sep;17(9):345-8. |