A329A |
not meaningfully associated with breast cancer risk; more likely to respond to Pt-based chemotherapy |
Homo sapiens |
A471V |
moderate decrease in activity |
Homo sapiens |
D189G |
impaired for extension step of TLS |
Homo sapiens |
E292K |
similar activity as wild-type enzyme |
Homo sapiens |
E29K |
decreased insertion opposite abasic site (2-20) |
Homo sapiens |
E419G |
20fold decrease in kcat/Km on dG and 670fold decrease on N2-CH2-Anth-dG, extension defect |
Homo sapiens |
E430G |
low activity on AP site |
Homo sapiens |
E449K |
low activity on AP site, low fidelity |
Homo sapiens |
F155S |
decreased activity on model abasic site |
Homo sapiens |
F192C |
slight increase in activity with N2-furfuryl-dG-containing templates |
Homo sapiens |
G154E |
decreased activity opposite model abasic site, pathogenic |
Homo sapiens |
I39T |
similar activity to WT with several types of DNA damage |
Homo sapiens |
L21F |
30fold decrease in incorporation opposite N2-CH2-(9-anthracenyl)-dG (N2-CH2-Anth-dG) |
Homo sapiens |
L442F |
low activity on AP site |
Homo sapiens |
P169T |
slight decrease in activity on undamaged DNA |
Homo sapiens |
R219I |
slight decrease in activity |
Homo sapiens |
R246X |
5-10fold less active with 8-oxo-dG-, N2-CH2-Anth-dG-, O6-Me-dG- and abasic-containing templates |
Homo sapiens |
R298H |
less active than wild-type on several different lesions |
Homo sapiens |
R512W |
decreased activity on undamaged and damaged DNA |
Homo sapiens |
S423R |
1.6fold more effcient than wild-type, 2fold increased DNA binding affinity, pathogenic |
Homo sapiens |
T44M |
lesion-specific reduction in activity. Reduced activity with N2-CH2-Anth-dG, O6-Me-dG and abasic sites |
Homo sapiens |
T473A |
decreased activity on undamaged and damaged DNA |
Homo sapiens |
V130I |
mutant has relaxed discrimination against the major groove adduct N6-furfuryl-dA |
Homo sapiens |
Y432S |
less active on undamaged and damaged DNA, extension defect, decreased DNA binding affinity |
Homo sapiens |