Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.1100G>T | p.Gly367Val |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GGG | Gly | GTG | Val | G->T | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Yes, non 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) |
---|---|---|
0.98 | 0.06 (non pathogenous) | 71 (Probably pathogenous) |
Sample ID | Patient status |
33_PSL33206-671--- | Relative |
Symptom |
Reference ID | Reference |
33 | Unpublished data |