| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4270C>G | p.Pro1424Ala | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCA | Pro | GCA | Ala | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #20 | Ca2+ binding | Yes, coding strand | No |
| 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 | 0.25 (non pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA04DIJ F0003 I0001 | Proband | Male | NA | FRANCE |
| Phenotypic group | Disease |
| NA | Marfanoid Syndrome |
| Symptom | Severity | Age |
| S-Arachnodactyly (M) | 18 | |
| S-Dolichostenomelia | 18 | |
| S-Joint hypermobility (m) | 18 | |
| S-Kyphosis | 18 | |
| S-Pectus excavatum moderate (m)(1) | 18 | |
| S-Protusio acetabulæ (M)(2) | 18 | |
| S-Scoliosis > 20° (M)(1) | thoracolumbar | 18 |
| Se-Hearing loss | 18 |
| 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. |