Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1886dup | p.Leu629PhefsX5 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTA | Leu | ins1c | Fs. | Stop at 633 |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM4 |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
7_-5813ILP0710728E070960 | Relative |
Symptom |
Reference ID | Reference |
7 | Unpublished data |