| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS17-2A>G (c.2168-2A>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 #07 | 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 (%) | |||||
| tttgtggtgcagAT |
| tttgtggtgcggAT |
| -33.5 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0035 I02 | Proband | Female | familial | 11 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | borderline |
| CF-Dolichocephaly | |
| O-Ectopia lentis | |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-Arm span/height >1.05 (M) | |
| S-Characteristic facial appearance | |
| S-Increased body length | |
| S-Reduced US/LS ratio <0.87 (M) |
| Reference ID | PubMed ID | Reference |
| 95 | 12203992 | Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Turkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN. "TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies". Hum Mutat. 2002 Sep;20(3):197-208. |