Mutations at homologous positions to ABCB11 p.Ser593
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.Ser593Arg
|
D
D
?
|
| ABCB1 |
p.Ser565Cys
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCB11 |
p.Ala588Val
p.Asn591Ser
p.Glu592Gln
p.Val597Met
p.Leu1249*
|
D
D
?
D
N
N
N
N
?
D
D
?
-
-
?
|
| ABCB1 |
p.Glu566Gln
p.Glu566Lys
p.Val569Cys
p.Glu1211Ala
p.Val1214Ile
p.Gln1215Asp
|
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
|
| ABCB3 |
p.Cys641Ser
|
N
N
?
|
| ABCB4 |
p.Asp564Gly
|
D
D
?
|
The alignment around the queried position:
877ABCB11 554
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
V
R
A
A
D
T
I
G
F
E
H
631
ABCB1 526
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
V
N
D
V
I
G
D
603
ABCB1 1171
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
I
Q
N
A
D
L
I
V
V
F
Q
N
1248
ABCB2 698
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
V
E
Q
A
D
H
I
L
F
L
E
G
777
ABCB3 602
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
V
Q
R
A
H
Q
I
L
V
L
Q
-
677
ABCB4 528
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
V
N
A
D
I
A
F
D
605
ABCB4 1177
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
I
Q
N
A
D
L
I
V
V
F
Q
N
1254
ABCB5 706
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
I
Q
N
A
D
L
I
V
V
L
H
N
783
ABCB6 722
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
V
V
N
A
D
Q
I
L
V
I
K
D
799
ABCB7 604
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
V
V
D
A
D
E
I
I
V
L
D
Q
681
ABCB8 607
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
V
R
G
A
H
C
I
V
V
M
A
D
684
ABCB9 638
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
V
E
H
A
H
L
I
V
V
L
D
K
715
ABCB10 629
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
I
K
N
A
N
M
V
A
V
L
D
Q
706
ABCB11 1214
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
I
Q
N
D
I
I
A
V
M
A
Q
1291