Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1561_1563delTCT | p.Ser521del |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TCT | Ser | del3a | InF | In frame del | InF |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM2 |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
4_20234---31181 | Relative |
Symptom |
Reference ID | Reference |
4 | Unpublished data |