| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7565G>C | p.Cys2522Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TCC | Ser | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #39 | Disulfide bonds 2511-2522 (C6) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0016 I13 | Proband | Male | familial | At 6 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | |
| S-Arachnodactyly (M) | borderline |
| S-Joint hypermobility (m) | |
| S-Pectus carinatum (M)(2) | |
| S-Reduced US/LS ratio <0.87 (M) |
| 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. |