| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS26+1G>C (c.3337+1G>C) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+1 | Spl. | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #13 | 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 (%) | |||||
| TGGgtaagt |
| TGGctaagt |
| -28.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER03HAN F0036 I01 | Proband | NA | NA | GERMANY |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 133 | 16220557 | Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Muller G, Singh KK, Schmidtke J, Arslan-Kirchner M. "Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome". Hum Mutat. 2005 Dec;26(6):529-39. |