| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS12+21G>A (c.1588+21G>A) | Heterozygous | Polymorphism? |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl+21 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #04 | Ca2+ binding | No |
| At the mRNA level | On restriction map |
| Not tested on cDNA (needed) | New restriction site(s): none Lost restriction site(s): BsaJ I |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER02MUN F0002 I01 | Proband | NA | NA | ? | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 53 | - | Grau U, Mair H, Detter D, Seidel D, Reicharrt B, Klein HG. "Molecular basis of the Marfan syndrome: Identification of molecular defects in the fibrillin-1 gene (FBN1) by SSCP and direct PCR-sequence analysis".4th International Symposium on Marfan syndrome, Davos, 1996, August 11-14. Abstract 43P. |