| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4704delA | p.Ala1569ProfsX12 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAA | Lys | del1c | Fs. | Stop at 1580 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#04 |
| At the mRNA level | On restriction map |
| Deletion in a stretch of nucleotides | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS01NAD F0009 I01 | Proband | Male | familial | at 11 years old | 23 years old | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| O-Increased axial length of globe (m) |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Chest deformity (unspecified) |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Plain pes planus (M)(1) |
| S-Protusio acetabulæ (M)(2) |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 56 | 9746367 | Gibson MA, Ellis SL, Ades LC, Haan E, Cleary EG. "Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene". Eur J Biochem 1998 Aug 15;256(1):221-8 . |