Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.3725G>A | p.Arg1242His |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CGT | Arg | CAT | His | G->A | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ATPase | No | Yes |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): Csp6 I, Rsa I |
Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
---|---|---|
1 | 0.00 (pathogenous) | 47 (Polymorphism) |
Sample ID | Patient status |
2_---41326214310404 | Relative |
Symptom |
Reference ID | Reference |
2 | Unpublished data |