| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8176C>T | p.Arg2726Trp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGG | Arg | TGG | Trp | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif | No | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA04DIJ F0005 I0001 | Proband | Male | familial | 21 | FRANCE |
| Phenotypic group | Disease |
| NA | Marfanoid Syndrome |
| Symptom | Age |
| C-Cardiac malformation | 21 |
| O-Myopia | 21 |
| OS-Epilepsy | 21 |
| S-Arachnodactyly (M) | 21 |
| S-Crowding teeth (m) | 21 |
| S-Dolichostenomelia | 21 |
| S-Joint hypermobility (m) | 21 |
| S-Scoliosis > 20° (M)(1) | 21 |
| SI-Skin hyperextensibility | 21 |
| Reference ID | PubMed ID | Reference |
| 256 | 23506379 | Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue M, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk P, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor M, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron A, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L. "Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability". Clin Genet. 2013 Dec;84(6):507-21. |