Table 1 Summary of experimental data and classification of p63 DBD mutations.
From: Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree
Mutation | Syndrome | Position | Activity | DNA binding | Zinc loss | Destabilization | Classification |
|---|---|---|---|---|---|---|---|
S272N | ELA | L3 | − | DNA contact | |||
R279H | ELA | L3 | − | − | − | ||
R279C | ELA | L3 | − | ||||
R279Q | ELA | L3 | − | ||||
R304W | ELA | L3 | − | − | + | − | |
R304Q | ELA | L3 | − | + | − | ||
R304P | ELA | L3 | − | ++ | + | ||
C308S | ELA | S10/H2 | + | +++ | |||
C308Y | ELA | S10/H2 | + | − | |||
A315E | ELA | H2 | − | ||||
Y192C | ELA | S4 | + | + | ++ | +++ | Zinc region |
Y192D | ELA | S4 | − | ||||
K193E | SHFM4 | S4/Ha | + | ++ | + | + | |
V202M | ELA | L2A | + | + | ++ | +++ | |
R204W | ELA | L2A | − | − | +++ | +++ | |
R204Q | ELA | L2A | + | + | ++ | +++ | |
R204L | ELA | L2A | + | + | ++ | + | |
H208Y | ELA | H1 | − | +++ | +++ | ||
C269Y | ELA | L3 | − | ||||
C273Y | ELA | L3 | − | ||||
R280S | ELA | L3 | − | − | + | + | |
R280C | ELA | L3 | − | − | + | +++ | |
R280H | ELA | L3 | + | ++ | + | +++ | |
154InsP | ELA | S2 | + | H2 region | |||
L162P | ELA | S2’ | − | ||||
Y163C | ELA | S2’ | − | ||||
C306Y | ELA | S10/H2 | − | ||||
C306R | ELA | S10/H2 | − | ||||
P309S | ELA | H2 | − | ||||
D312G | ELA | H2 | − | ||||
D312N | ELA | H2 | − | ||||
D312H | ELA | H2 | − | ||||
R313G | ELA | H2 | − | − | + | + | |
G134D | ELA | N-term. | +++ | +++ | Dimer interface | ||
K194E | SHFM4 | S4/Ha | + | − | + | − | |
R227Q | ELA | S5 | + | ++ | − | − | |
R298Q | ELA | S10 | +++ | ++ | − | + | |
R298G | ELA | S10 | +++ | ++ |