Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1722dup | p.Cys575MetfsX6 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TGT | Cys | ins1a | Fs. | Stop at 580 |
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 |
SO_-3437G03875G03875 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |