| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS31-2A>T (c.3965-2A>T) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl-2 | Spl. | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #18 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Skipping of exon 32, 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 (%) | |||||
| tcatttttccagAC |
| tcatttttcctgAC |
| -32.4 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA02OMA F0003 I497 | Proband | Female | NA | newborn | 3 months | U.S.A |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Congestive heart failure |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| C-Tricuspid valve prolapse |
| S-Abnormal ears |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Joint hypermobility (m) |
| S-Joint limitations |
| Reference ID | PubMed ID | Reference |
| 17 | 7633409 | Wang M, Price C, Han J, Cisler J, Imaizumi K, Van Thienen MN, DePaepe A, Godfrey M. "Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome". Hum Mol Genet 1995 Apr;4(4):607-13 . |