| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8525_8529delTTAAC | p.Leu2842ProfsX7 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTT | Leu | del5b | Fs. | Stop at 2848 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif | conserved AA fibu Glob DIII |
| At the mRNA level | On restriction map |
| Deletion flanked by direct repeats | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0020 I32 | Proband | Male | de novo | At 13 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | moderate |
| S-Arachnodactyly (M) | |
| S-Increased body length | |
| S-Pectus carinatum (M)(2) | |
| S-Reduced US/LS ratio <0.87 (M) | |
| SI-Inguinal hernia | bilateral |
| Reference ID | PubMed ID | Reference |
| 82 | 10756346 | Palz M, Tiecke F, Booms P, Goldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson PN. "Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation". Am J Med Genet 2000 Mar 20;91(3):212-21. |