Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1938_1939delinsC | p.Ile646_Arg653delinsMet |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
ATA | Ile | indels | indels | indels | indels |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM5 |
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) |
---|---|---|
0.94 | - | 65 (Probably pathogenous) |
Sample ID | Patient status |
SO_-1794G00476G00476 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |