| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS30+1G>A (c.3838+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 |
| cb EGF-like #17 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Skipping of exon 30, 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 (%) | |||||
| TAGgtaagc |
| TAGataagc |
| -28 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CAN01TOR F0005 I0001 | Proband | Male | NA | HUNGARY |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Bicuspid aortic valve | |
| C-Mitral valve prolapse | |
| C-Tricuspid valve prolapse | |
| CF-Deep set eyes | |
| CF-Dolichocephaly | |
| CF-Retrognathia | |
| S-Arachnodactyly (M) | |
| S-Characteristic facial appearance | |
| S-High arched palate | |
| S-Joint limitations | elbow, knee |
| S-Pectus carinatum (M)(2) | |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 214 | 20803651 | Barnett CP, Wilson GJ, Chiasson DA, Gross GJ, Hinek A, Hawkins C, Chitayat D. "Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene". Am J Med Genet A. 2010 Sep;152A(9):2409-12. |