Mutations at homologous positions to ABCB11 p.Leu581
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 |
||
|---|---|---|
| ABCB11 |
p.Leu581Phe
|
N
D
?
|
| ABCB1 |
p.Leu553Pro
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCB11 |
p.Asn576Ser
p.Thr586Ile
p.Leu1242Ile
p.Asp1243Gly
|
N
D
?
D
D
?
D
N
?
D
D
?
|
| ABCB1 |
p.Pro549Cys
p.Leu554Cys
p.Asp555Asn
p.Asp555Ala
p.Glu556Gln
p.Glu556Ala
p.Glu556Cys
p.Glu556Thr
p.Thr558Asp
p.Pro1194Ala
p.His1195Tyr
p.Ile1196Ser
p.Ile1196Tyr
p.Asp1200Asn
p.Asp1200Ala
p.Glu1201Gln
p.Glu1201Ala
p.Glu1201Cys
p.Thr1203Cys
|
D
D
?
D
D
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCB10 |
p.Glu659Gln
|
D
D
?
|
| ABCB3 |
p.Glu632Gln
p.Glu632Asp
|
D
D
?
D
N
?
|
| ABCB4 |
p.Leu556Arg
p.Glu558Gln
p.Glu558Lys
p.Glu1207Gln
|
D
D
?
D
D
?
D
D
?
D
D
?
|
The alignment around the queried position:
865ABCB11 542
M
D
L
P
Q
T
L
V
G
E
G
G
M
S
G
Q
K
Q
R
V
A
I
R
A
L
I
P
K
I
L
L
D
M
A
L
D
E
A
M
Q
E
V
L
S
K
-
-
I
Q
H
G
H
T
I
I
S
V
A
H
L
S
619
ABCB1 514
M
F
L
E
G
Q
I
A
A
L
V
N
K
I
L
A
S
A
L
D
T
E
A
V
Q
V
A
L
D
K
-
-
R
G
T
I
V
I
A
H
L
S
591
ABCB1 1159
E
S
P
N
Y
S
V
G
D
K
G
T
Q
K
Q
R
I
A
I
A
R
A
L
V
R
Q
L
L
L
A
S
A
L
D
T
E
S
K
V
E
A
L
D
K
-
-
A
R
G
R
I
V
I
A
H
R
L
S
1236
ABCB2 686
S
G
L
P
Q
G
Y
D
T
E
V
E
A
G
S
Q
L
S
G
G
Q
R
Q
A
V
A
L
A
R
A
L
I
R
K
P
C
V
L
I
L
D
D
A
T
S
A
L
D
A
N
S
Q
L
Q
V
E
Q
L
L
Y
E
S
E
R
Y
S
R
S
V
L
L
I
T
Q
H
L
S
L
765
ABCB3 590
Q
E
M
E
H
G
I
Y
T
D
V
G
K
G
S
Q
A
Q
K
Q
R
L
A
I
A
R
A
L
V
R
D
P
R
V
L
I
L
D
A
T
S
A
L
D
V
-
-
-
-
Q
E
Q
A
L
Q
D
W
N
S
G
D
R
L
V
I
A
L
Q
665
ABCB4 516
M
K
P
Q
K
F
D
T
L
G
R
G
A
Q
L
S
K
Q
R
A
I
L
V
N
P
K
I
L
L
D
A
T
S
A
L
T
E
S
E
A
E
V
Q
A
A
L
D
K
-
-
A
R
E
T
T
V
I
H
S
593
ABCB4 1165
E
T
L
P
H
K
E
T
R
V
G
D
K
T
L
S
G
G
Q
K
Q
R
I
A
I
R
A
L
I
R
Q
P
Q
I
L
L
L
D
A
T
S
A
L
D
T
E
S
E
K
V
V
Q
E
A
L
D
K
-
-
A
R
E
G
R
T
C
I
V
I
A
H
R
L
S
T
1242
ABCB5 694
E
G
L
P
E
K
Y
N
T
Q
V
G
L
K
G
A
Q
L
S
G
G
Q
K
Q
R
L
A
I
A
R
A
L
L
Q
K
P
K
I
L
L
L
D
E
A
T
S
A
L
D
N
D
S
E
K
V
V
Q
H
A
L
D
K
-
-
A
R
T
G
R
T
C
L
V
V
T
H
R
L
S
A
771
ABCB6 710
M
A
F
P
E
G
Y
R
T
Q
V
G
E
R
G
L
K
L
S
G
G
E
K
Q
R
V
A
I
A
R
T
I
L
K
A
P
G
I
I
L
L
D
E
A
T
S
A
L
D
T
S
N
E
R
A
I
Q
A
S
L
A
K
-
-
V
C
A
N
R
T
T
I
V
V
A
H
R
L
S
T
787
ABCB7 592
L
R
M
P
H
G
Y
D
T
Q
V
G
E
R
G
L
K
L
S
G
G
E
K
Q
R
V
A
I
A
R
A
I
L
K
D
P
P
V
I
L
Y
D
E
A
T
S
S
L
D
S
I
T
E
E
T
I
L
G
A
M
K
D
-
-
V
V
K
H
R
T
S
I
F
I
A
H
R
L
S
T
669
ABCB8 595
T
S
F
P
E
G
Y
N
T
V
V
G
E
R
G
T
T
L
S
G
G
Q
K
Q
R
L
A
I
A
R
A
L
I
K
Q
P
T
V
L
I
L
D
E
A
T
S
A
L
D
A
E
S
E
R
V
V
Q
E
A
L
D
R
-
-
A
S
A
G
R
T
V
L
V
I
A
H
R
L
S
T
672
ABCB9 626
M
E
L
Q
D
G
Y
S
T
E
T
G
E
K
G
A
Q
L
S
G
G
Q
K
Q
R
V
A
M
A
R
A
L
V
N
P
P
V
L
I
L
D
E
A
T
S
A
L
D
A
E
S
E
Y
L
I
Q
Q
A
I
H
G
-
-
N
L
Q
K
H
T
V
L
I
I
A
R
L
S
T
703
ABCB10 617
R
N
F
P
Q
G
F
N
T
V
V
G
E
K
G
V
L
L
S
G
G
Q
K
Q
R
I
A
I
A
R
A
L
L
K
N
P
K
I
L
L
L
D
A
T
S
A
L
D
A
E
N
E
Y
L
V
Q
E
A
L
D
R
-
-
L
M
D
G
R
T
V
L
V
I
A
H
L
S
T
694
ABCB11 1202
M
S
L
P
E
K
E
G
S
G
S
Q
L
S
R
G
K
Q
I
I
A
A
I
V
D
P
K
I
L
L
E
A
T
S
A
D
T
E
S
E
K
T
V
Q
V
A
L
D
K
-
-
A
R
E
G
T
C
I
V
I
A
H
R
L
S
T
1279