| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1170G>A | p.Pro390Pro | Heterozygous | LIKELY NEUTRAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCG | Pro | CCA | Pro | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Pem,NM,RP,FA,HD | Yes, non coding strand | Yes |
| Other variation(s) reported for this sample: c.1296G>A |
| At the mRNA level | On restriction map |
| New restriction site(s): BstN I, EcoR II Lost restriction site(s): Eag I, Hpa II, Msp I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 23 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 04-AY01-S01R- | Proband | Female | 26 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |