| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1513G>A | p.Gly505Ser | Heterozygous | UV |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | AGC | Ser | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Sm3,CH | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): HgiA I Lost restriction site(s): BsaJ I, BstK I, BstN I, Dsa V, EcoR II, ScrF I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 53 (Probable polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 02-YI14-P01U- | Proband | Female | 44 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |