| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS5-2A>G (c.1397-2A>G) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | spl-2 | Spl. | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #04 |
| At the mRNA level | On restriction map |
| In frame insertion of 30 nucleotides | 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 (%) | |||||
| ctttcttcacagAA |
| ctttcttcacggAA |
| -31.4 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| JAP01TOK P0001 I0001 | Proband | Male | de novo | JAPAN |
| Phenotypic group | Disease |
| NA | LDS type I |
| Symptom |
| CF-Craniosynostosis |
| CF-Dolichocephaly |
| CF-Down-slanting palpebral fissures |
| CF-Exotropia |
| CF-Hypertelorism |
| CF-Malar hypoplasia |
| CF-Proptosis |
| S-Arachnodactyly |
| S-Arachnodactyly |
| S-Pectus excavatum |
| S-Scoliosis > 20° |
| S-Talipes equinovarus |
| Reference ID | PubMed ID | Reference |
| 30 | 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. |