Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1744_1958del | p.Glu582AlafsX20 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAA | Glu | del215a | Fs. | Stop at 601 | Fr. |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM3 |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
37_P04.122624--- | Relative |
Symptom |
Reference ID | Reference |
37 | Unpublished data |