| 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 |
| TAI01TAI F0002 I0001 | Proband | NA | NA | TAIWAN |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 183 | 19839986 | Hung CC, Lin SY, Lee CN, Cheng HY, Lin SP, Chen MR, Chen CP, Chang CH, Lin CY, Yu CC, Chiu HH, Cheng WF, Ho HN, Niu DM, Su YN. "Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome". Ann Hum Genet. 2009 Nov;73(Pt 6):559-67. |