Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS6-7delTTTT (c.3557-7delTTTT) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAA | Glu | spl-7 | Spl. | delTTTT |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Impact on splicing | ||||||||||
Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
tttttttttaagGT |
| tttttaagGTTGAA |
| -44.9 % |
Sample ID | Patient status |
2_02-DDM1024836306213224443 | Relative |
Symptom |
Reference ID | Reference |
2 | Unpublished data |