| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS10+1G>A (c.1327+1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGG | Arg | spl+1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Proline-rich |
| 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 (%) | |||||
| CAAgtaaga |
| CAAataaga |
| -30.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD05LON F0201 I0001 | Proband | NA | de novo | U.K. |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 238 | 22736615 | Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G. "A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis". Invest Ophthalmol Vis Sci. 2012 Jul 24;53(8):4889-96. |