| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS17-1G>T (c.2168-1G>T) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl-1 | Spl. | G->T | Tv |
| 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 |
| tttgtggtgcatAT |
| -33.5 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI09GUA F0001 I0001 | Proband | Male | familial | ? (11 years old) | CHINA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Age |
| O-Ectopia lentis | 11 |
| O-Myopia | 11 |
| O-Strabismus | 11 |
| S-Arachnodactyly (M) | 11 |
| Reference ID | PubMed ID | Reference |
| 179 | 19390640 | Zhao L, Liang T, Xu J, Lin H, Li D, Qi Y. "Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families". Mol Vis. 2009;15:826-32. |