Mutations at homologous positions to ABCB11 p.Gln546
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.Gln546Lys
p.Gln546His
|
N
N
?
N
N
?
|
| ABCB1 |
p.His518Tyr
|
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCB11 |
p.Ile541Leu
p.Ile541Thr
p.Phe548Tyr
p.Asp549Val
p.Tyr1208Cys
p.Thr1210Pro
p.Asn1211Asp
|
D
N
?
D
D
?
N
N
?
D
D
?
D
D
?
D
D
?
N
N
?
|
| ABCB1 |
p.Lys515Cys
p.Leu516Asp
p.Pro517Cys
p.Pro517Ile
p.Pro517Phe
p.Lys519Cys
p.Asp521Pro
p.Thr522Ser
p.Thr522Ile
p.Ile1158Gln
p.Leu1161Gly
p.Lys1164Val
p.Thr1167Arg
p.Lys1168Glu
|
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
|
| ABCB4 |
p.Leu518Tyr
p.Tyr1171Cys
|
D
D
?
D
D
?
|
The alignment around the queried position:
830ABCB11 510
T
T
A
E
I
Y
G
E
D
-
-
A
T
M
E
D
-
V
Q
A
A
K
E
A
N
A
Y
N
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
586
ABCB1 482
T
T
I
A
E
N
G
E
N
-
-
T
M
E
-
A
V
K
A
A
Y
F
I
M
F
L
E
G
Q
I
A
A
L
V
N
K
I
L
A
558
ABCB1 1125
S
I
A
E
N
I
A
Y
G
D
N
R
V
V
Q
E
-
V
R
A
A
K
E
A
N
I
H
A
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
1203
ABCB2 653
R
S
L
Q
E
N
I
A
Y
G
L
T
-
-
K
P
T
M
E
E
I
T
A
A
A
V
K
S
G
A
H
S
F
I
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
730
ABCB3 558
G
S
V
R
N
N
I
Y
G
L
-
-
-
Q
S
E
D
D
K
V
A
A
A
Q
A
A
H
A
D
D
F
I
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
634
ABCB4 484
T
T
I
A
E
N
C
Y
G
R
N
-
-
V
T
M
D
E
-
I
K
K
A
V
K
E
A
Y
E
F
I
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
560
ABCB4 1131
C
S
I
A
E
N
A
Y
G
D
N
S
R
V
V
S
Q
D
E
-
I
V
S
A
A
K
A
A
N
I
H
F
I
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
1209
ABCB5 660
C
S
I
A
E
N
I
A
Y
G
D
N
S
R
V
V
P
L
D
E
-
I
K
E
A
A
N
A
N
I
H
S
F
I
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
738
ABCB6 678
D
T
I
A
D
N
I
R
Y
G
R
-
-
-
V
T
A
G
N
D
E
V
E
A
A
A
Q
A
A
G
I
H
D
A
I
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
754
ABCB7 560
N
T
I
Y
Y
N
L
L
Y
G
N
-
-
-
I
S
A
S
P
E
E
V
Y
A
V
A
K
L
A
G
L
H
D
A
I
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
636
ABCB8 563
T
T
I
M
E
N
I
R
F
G
K
-
-
-
L
E
A
S
D
E
E
V
Y
T
A
A
R
E
A
N
A
H
E
F
I
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
639
ABCB9 594
R
S
I
T
D
N
I
S
Y
G
L
-
-
-
P
T
V
P
F
E
M
V
V
E
A
A
Q
K
A
N
A
H
G
F
I
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
670
ABCB10 582
C
S
I
A
E
N
I
A
Y
G
A
D
D
P
S
S
V
T
A
E
I
Q
R
V
A
E
V
A
N
A
V
A
F
I
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
661
ABCB11 1168
C
S
I
M
D
I
K
Y
G
D
N
T
K
E
P
M
R
-
V
I
A
A
A
K
Q
A
Q
D
F
V
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
1246