Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1621C>T | p.Gln541X |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CAG | Gln | TAG | Stop | C->T | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM2 | No | No |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
SO_-2365G02949G02949 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |