Mutations at homologous positions to ABCB4 p.Tyr118
Alignment: ABCB_halves, Alignment of ABC subunits from proteins in the ABCB subfamily, 2011-11-21 18:43:41Mutations exactly at the same position:
SNAP2 PROVEAN Effect_dbs |
||
---|---|---|
ABCB4 |
p.Tyr118Cys
|
N
D
?
|
Mutations +/- 5 a.a. around the position:
ABCB4 |
p.Met113Leu
|
N
N
?
|
ABCB1 |
p.Arg113Ala
p.Arg113Cys
p.Arg113Met
p.Arg113Glu
p.Arg113Lys
p.Tyr114Cys
p.Tyr114Glu
p.Tyr114Met
p.Tyr114Lys
p.Tyr114Ala
p.Tyr118Cys
p.Ile121Phe
p.Ala761Ser
|
N
N
?
D
D
?
N
N
?
N
N
?
N
N
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
D
?
N
D
?
N
N
?
|
ABCB3 |
p.Ala192Thr
p.Cys197Ala
|
N
D
?
N
D
?
|
The alignment around the queried position:
ABCB4 90
G
N
F
S
F
V
N
F
S
-
L
S
L
L
N
P
G
-
-
-
-
-
-
-
-
-
-
K
I
L
E
E
E
T
R
Y
A
Y
Y
S
G
L
G
A
V
L
V
A
A
Y
I
Q
S
-
-
-
F
T
L
A
A
G
I
R
K
I
Q
K
F
F
H
155
ABCB1 84
N
L
E
D
L
S
I
T
R
S
D
I
D
T
-
-
-
-
-
-
-
M
N
L
D
M
T
A
Y
Y
S
G
G
G
L
V
V
-
-
-
F
R
Q
H
K
I
R
K
Q
F
F
H
153
ABCB1 723
I
F
S
K
I
G
V
F
T
I
P
-
-
-
-
-
E
T
K
R
Q
N
S
N
L
F
S
L
L
F
L
L
G
-
-
-
L
T
K
L
R
M
V
R
794
ABCB2 259
L
G
E
M
A
I
P
F
F
T
G
R
L
T
D
W
I
L
-
-
-
-
-
-
-
-
-
D
G
S
A
D
T
F
T
R
N
L
T
L
M
S
I
L
T
I
A
S
A
V
L
E
F
V
G
D
G
-
-
-
I
Y
N
N
T
M
G
H
H
S
H
L
Q
G
E
V
F
G
326
ABCB3 164
L
G
T
L
I
P
H
Y
S
G
V
I
I
G
-
-
-
-
-
-
-
-
-
D
F
D
P
H
A
F
A
S
I
F
F
M
L
F
S
F
G
S
S
L
S
A
G
R
G
G
-
-
-
F
T
Y
T
M
S
R
I
N
L
R
I
R
E
Q
L
F
S
231
ABCB4 723
L
A
S
V
I
S
E
I
I
F
G
D
D
-
-
-
-
-
-
A
V
K
Q
Q
K
C
N
I
F
S
L
I
F
L
F
L
I
S
F
F
T
F
L
Q
F
-
-
-
F
G
K
A
G
E
I
L
T
R
R
L
S
M
A
F
K
793
ABCB5 259
T
V
H
P
V
F
S
I
I
F
A
K
I
I
T
M
F
G
N
N
D
K
-
-
-
-
-
-
T
T
L
K
H
D
A
E
I
Y
S
M
I
F
V
I
L
G
V
I
C
F
V
S
Y
F
M
Q
G
L
-
-
-
F
Y
G
R
A
G
E
I
L
T
M
R
L
R
H
L
A
F
K
329
ABCB6 277
A
L
N
V
L
V
P
I
F
Y
R
N
I
V
N
L
L
T
E
K
A
P
-
-
-
-
W
N
S
L
A
W
T
V
T
S
Y
V
F
L
K
F
L
Q
G
G
G
T
G
-
T
G
F
V
S
N
L
R
T
F
L
W
I
R
V
Q
Q
F
T
S
R
R
V
E
L
L
I
F
S
351
ABCB7 152
A
M
N
I
V
V
P
F
M
F
K
Y
A
V
D
S
L
N
Q
M
S
G
N
M
L
N
L
S
D
A
P
N
T
V
A
T
M
A
T
A
V
L
I
G
Y
G
V
S
R
A
G
A
A
F
F
N
V
R
N
A
V
F
G
K
V
A
Q
N
S
I
R
R
I
A
K
N
V
F
L
231
ABCB8 160
L
V
N
V
Q
I
P
L
L
L
G
Q
L
V
E
V
V
A
K
Y
T
R
-
-
-
-
-
-
D
H
V
G
S
F
M
T
E
S
Q
N
L
S
T
H
L
L
I
L
Y
G
V
Q
G
L
L
T
F
G
Y
L
V
L
L
S
H
V
G
E
R
M
A
V
D
M
R
R
A
L
F
S
233
ABCB9 200
L
G
E
T
F
L
P
Y
Y
T
G
R
A
I
D
G
I
V
I
-
-
-
-
-
-
-
-
-
Q
K
S
M
D
Q
F
S
T
A
V
V
I
V
C
L
L
A
I
G
S
S
F
A
A
G
I
R
G
G
-
-
-
I
F
T
L
I
F
A
R
L
N
I
R
L
R
N
C
L
F
R
267
ABCB10 183
V
I
S
M
S
A
P
F
F
L
G
K
I
I
D
V
I
Y
T
N
P
T
-
-
-
-
-
-
V
D
Y
S
D
N
L
T
R
L
C
L
G
L
S
A
V
F
L
C
G
A
A
A
N
A
I
R
V
Y
-
-
-
L
M
Q
T
S
G
Q
R
I
V
N
R
L
R
T
S
L
F
S
253
ABCB11 109
N
N
T
V
T
N
S
S
L
N
N
T
N
G
T
C
G
L
-
-
-
-
-
L
N
I
S
M
I
K
F
A
S
Y
Y
A
G
I
A
V
A
V
L
I
T
G
I
Q
I
C
-
-
-
F
W
V
I
A
A
R
Q
I
Q
K
M
R
K
F
Y
F
R
180
ABCB11 767
T
V
T
P
L
A
F
L
F
S
Q
I
L
G
T
F
S
I
P
D
K
-
-
-
-
-
-
E
E
R
S
Q
I
N
G
V
C
L
L
F
V
A
M
G
C
V
S
L
F
T
Q
F
L
Q
G
-
-
-
A
F
A
K
S
G
E
L
T
K
R
L
K
F
G
F
R
837