Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1961T>C | p.Met654Thr |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
ATG | Met | ACG | Thr | T->C | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Connector | No | 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) |
---|---|---|
0.78 | 0.72 (non pathogenous) | 41 (Polymorphism) |
Sample ID | Patient status |
19_2729827298-00127298-001 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |