| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2088C>A | p.Cys696X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGA | Stop | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#02 | C in disulfide bonds 670-696 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Drd I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0195 I0234 | Proband | Male | de novo | FRANCE |
| Phenotypic group | Disease |
| NA | Shprintzen-Goldberg |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 145 | 19293843 | Stheneur C, Collod-B*roud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. "Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene". Eur J Hum Genet. 2009 Sep;17(9):1121-8. |