| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS35-32del20a (c.4460-32del20a) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl-32 | Spl. | del20a | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #22 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Skipping of exon 35, 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 (%) | |||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CZE01PRA F0001 I0001 | Proband | Female | familial | 1,7 | CZECH |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | |
| C-Tricuspid valve prolapse | |
| CNS-Developmental delay | |
| O-Ectopia lentis | bilateral |
| S-Abnormal ears | |
| S-Arachnodactyly (M) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Plain pes planus (M)(1) | |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 280 | 24668922 | S’pek A Jr, Grodeck‡ L, Baxov‡ A, Cibulkov‡ P, Dvo?‡kov‡ M, Mazurov‡ S, Magner M, Zeman J, Honz’k T, Freiberger T. "Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome". Am J Med Genet A. 2014 Jun;164A(6):1559-64. |