Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.3425A>C | p.Asn1142Thr |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AAT | Asn | ACT | Thr | A->C | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Beta-catenin binding domain 2 | 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) |
---|---|---|
0.56 | 0.03 (pathogenous) | 57 (Probable polymorphism) |
Sample ID | Patient status |
10_APC-081---923P | Relative |
Symptom |
Reference ID | Reference |
10 | Unpublished data |