Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.439G>C | p.Asp147His |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAC | Asp | CAC | His | G->C | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
HhH & pseudo-HhH | 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 | 0.01 (pathogenous) | 70 (Probably pathogenous) |
Sample ID | Patient status |
10_MYH-100---2857P | Relative |
Symptom |
Reference ID | Reference |
10 | Unpublished data |