Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1866C>A | p.Tyr622X |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TAC | Tyr | TAA | Stop | C->A | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM4 | Yes, coding strand | No |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
4_30679---30679 | Relative |
Symptom |
Reference ID | Reference |
4 | Unpublished data |