| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1238T>C | p.Leu413Pro | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTG | Leu | CCG | Pro | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Pem,NM,RP,HD,CH | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): NspB II Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 59 (Probable polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 01-BO21-P08I- | Proband | Male | 41 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 34 | 11241849 | Besan*on, R., Latour, P., Lara, K., Laetitia, B., Mularoni, A., Chamba, G. and Vandenberghe, A. (2001), Exonic SNPs at positions 220 (A/G) and 445 (C/T) of the peripheral myelin protein 2 (PMP2) . Hum. Mutat., 17: 237. doi: 10.1002/humu.11 |