| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS58-2A>G (c.7331-2A>G) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl-2 | Spl. | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #38 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Not tested on cDNA | 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 (%) | |||||
| ctttgatcatagAT |
| ctttgatcatggAT |
| -35.9 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0015 I55 | Proband | Male | NA | At 40 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Severity |
| C-Desc. aortic dissection (thor. or abdo.) | |
| O-Ectopia lentis | |
| S-Arachnodactyly (M) | borderline |
| SI-Inguinal hernia |
| 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. |