| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS14+5G>A (c.1837+5G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl+5 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #06 | 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 (%) | |||||
| AAGgttcgt |
| AAGgttcat |
| -14.3 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS01NAD F0013 I29 | Proband | Male | familial | at 8 years old | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| O-Ectopia lentis |
| O-Ectopia lentis |
| S-Joint hypermobility (m) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 114 | 14695540 | Biggin A, Holman K, Brett M, Bennetts B, Ades L. "Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy". Hum Mutat. 2004 Jan;23(1):99. |