Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1748_1756del | p.Ser583X |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TCA | Ser | del9b | InF | Stop at 583 | InF |
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_-1080G00386G00386 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |