| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3662G>A | p.Cys1221Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #15 | Disulfide bonds 1208-1221 (C4) | No | 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| JAP02TOK F0002 I0001 | Proband | Male | NA | JAPAN |
| Phenotypic group | Disease |
| NA | Shprintzen-Goldberg |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | borderline | 4 |
| C-Mitral valve prolapse | 4 | |
| CF-Craniosynostosis | 4 | |
| CF-Dolichocephaly | 0,66 | |
| CF-Down-slanting palpebral fissures | 4 | |
| CF-Exotropia | 4 | |
| CF-Hypertelorism | 4 | |
| CF-Malar hypoplasia | 4 | |
| CF-Proptosis | 4 | |
| S-Arachnodactyly (M) | ||
| S-Camptodactyly | ||
| S-Joint limitations | 4 | |
| S-Pectus carinatum (M)(2) | 4 | |
| S-Scoliosis > 20° (M)(1) | 0,66 | |
| S-Scoliosis > 20° (M)(1) | 4 |
| Reference ID | PubMed ID | Reference |
| 141 | 16333834 | Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T."Molecular pathology of Shprintzen-Goldberg syndrome". Am J Med Genet A. 2006 Jan 1;140(1):104-8. |