| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS27-1G>A (c.3464-1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl-1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #14 | 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 (%) | |||||
| ttttcccgacagAC |
| ttttcccgacaaAC |
| -31.5 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER07COL F0002 I0001 | Proband | Male | NA | SAUDI ARABIA |
| Phenotypic group | Disease |
| NA | Lens subluxation |
| Symptom | Age |
| S-Pectus excavatum moderate (m)(1) | 7 |
| Reference ID | PubMed ID | Reference |
| 281 | 24698609 | Khan AO, Bolz HJ, Bergmann C. "Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation". J AAPOS. 2014 Apr;18(2):134-9. |