| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS2+1G>A (c.247+1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCC | Pro | spl+1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #01 |
| At the mRNA level | On restriction map |
| Skipping of exon 2, frameshift | 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 (%) | |||||
| TCCgtaagt |
| TCCataagt |
| -32.6 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD07WIL F0094 I0001 | Proband | Male | familial | ? (61 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Mitral valve prolapse | 61 |
| CNS-Lumbosacral dural ectasia | 61 |
| O-Myopia | 61 |
| S-Incomplete description | 61 |
| Reference ID | PubMed ID | Reference |
| 178 | 19161152 | Turner CL, Emery H, Collins AL, Howarth RJ, Yearwood CM, Cross E, Duncan PJ, Bunyan DJ, Harvey JF, Foulds NC. "Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy". Am J Med Genet A. 2009 Feb;149A(2):161-70. |