| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS2+1G>A (c.247+1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCC | Pro | spl+1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #01 |
| At the mRNA level | On restriction map |
| Skipping of exon 2, frameshift | 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 (%) | |||||
| TCCgtaagt |
| TCCataagt |
| -32.6 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA04DIJ F0001 I0001 | Proband | Female | de novo | 2 | FRANCE |
| Phenotypic group | Disease |
| NA | Marfanoid Syndrome |
| Symptom | Severity | Age |
| C-Desc. aortic dilatation (thor or abdo) | 5 | |
| C-Mitral regurgitation | 4 | |
| C-Mitral valve prolapse | surgery | 4 |
| CNS-Lumbosacral dural ectasia | ||
| O-Ectopia lentis | ||
| S-Arachnodactyly (M) | ||
| S-Dolichostenomelia | ||
| S-High arched palate | ||
| S-Joint hypermobility (m) | ||
| S-Pectus excavatum moderate (m)(1) | ||
| S-Plain pes planus (M)(1) | ||
| S-Scoliosis > 20° (M)(1) | ||
| SI-Significant striae atrophicae (m)(1) |
| 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. |