Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1677C>T | p.Cys559Cys |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TGC | Cys | TGT | Cys | C->T | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Connector | 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) |
---|---|---|
0.96 | 1.00 (non pathogenous) | 18 (Polymorphism) |
Sample ID | Patient status |
SO_---------- | Proband |
Symptom |
Reference ID | Reference |
71 | Unpublished data |