| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS53+1G>C (c.6616+1G>C) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+1 | Spl. | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #34 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Skipping of exon 53, in frame | 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 (%) | |||||
| AAGgtacat |
| AAGctacat |
| -34.4 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA02OMA F0001 I01 | Proband | Female | familial | ? (19 years old) | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | |
| O-Myopia >3 diopters (1) | severe |
| S-Arachnodactyly (M) | |
| S-Arm span/height >1.05 (M) | |
| S-Chest deformity (unspecified) | |
| S-Dolichostenomelia | |
| S-High arched palate | surgery |
| S-Increased body length | |
| S-Joint hypermobility (m) | |
| S-Joint limitations | mild |
| S-Joint limitations | |
| S-Long bone over growth | |
| S-Reduced US/LS ratio <0.87 (M) | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 6 | 8101042 | Godfrey M, Vandemark N, Wang M, Velinov M, Wargowski D, Tsipouras P, Han J, Becker J, Robertson W, Droste S, et al. "Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome". Am J Hum Genet 1993 Aug;53(2):472-80 . |