| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS63+373G>T (c.8051+373G>T) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGG | Gly | spl+373 | Spl. | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #43 |
| At the mRNA level | On restriction map |
| Insertion of 93bp (intron 63) | 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 (%) | |||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA05HOU F0017 I01 | Proband | Female | familial | U.S.A. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 11 |
| C-Mitral valve prolapse | 11 |
| S-Arachnodactyly (M) | 11 |
| S-High arched palate | 11 |
| S-Increased body length | 11 |
| S-Joint hypermobility (m) | 11 |
| S-Plain pes planus (M)(1) | 11 |
| S-Reduced US/LS ratio <0.87 (M) | 11 |
| S-Scoliosis > 20° (M)(1) | 11 |
| SI-Significant striae atrophicae (m)(1) | 11 |
| Reference ID | PubMed ID | Reference |
| 176 | 18795226 | Guo DC, Gupta P, Tran-Fadulu V, Guidry TV, Leduc MS, Schaefer FV, Milewicz DM. "An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease". J Hum Genet. 2008;53(11-12):1007-11. |