| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.668T>C | p.Leu223Pro | 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,Sm,NM,NMH,FA,HD | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none 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 |
| 03-PH09-S09M- | Relative | Female |
| Phenotypic group | Disease |
| asymptomatic | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 7 | 9683585 | Giraud, S., Zhang, C. X., Serova-Sinilnikova, O., Wautot, V., Salandre, J., Buisson, N., ? Calender, A. (1998). Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. American Journal of Human Genetics, 63(2), 455?67. doi:10.1086/301953 |