Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.1264C>T | p.Leu422Phe |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CTC | Leu | TTC | Phe | C->T | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
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) |
---|---|---|
0.95 | 0.00 (pathogenous) | 53 (Probable polymorphism) |
Sample ID | Patient status |
10_MYH-88---2700P | Relative |
Symptom |
Reference ID | Reference |
10 | Unpublished data |