Mutations at homologous positions to ABCB11 p.Arg223
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.Arg223Cys
|
N
N
?
|
| ABCB1 |
p.Ser196Cys
p.Ser196Gly
p.Asn839Cys
p.Asn839Ile
|
N
N
?
N
N
?
D
D
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCB11 |
p.Ser226Leu
p.Gly877Arg
|
D
N
?
D
D
?
|
| ABCB1 |
p.Gly191Cys
p.Gly191Arg
p.Met192Cys
p.Phe193Cys
p.Phe194Cys
p.Gln195Cys
p.Met197Cys
p.Ala198Cys
p.Thr199Ala
p.Thr199Arg
p.Thr199Cys
p.Phe200Cys
p.Phe201Cys
p.Ala834Cys
p.Val835Cys
p.Ile836Cys
p.Ile836Val
p.Thr837Cys
p.Thr837Ala
p.Gln838Cys
p.Ile840Cys
p.Ile840Ala
p.Ala841Cys
p.Ala841Leu
|
D
D
?
D
D
?
D
D
?
N
D
?
N
D
?
D
D
?
N
N
?
N
N
?
D
D
?
D
D
?
D
D
?
N
D
?
N
N
?
D
D
?
N
N
?
N
D
?
D
N
?
D
N
?
N
N
?
D
D
?
N
D
?
N
D
?
N
N
?
D
D
?
|
| ABCB3 |
p.Leu272Pro
p.Arg273His
|
D
D
?
D
D
?
|
| ABCB4 |
p.Thr201Met
p.Ala840Asp
|
N
D
?
D
D
?
|
| ABCB5 |
p.Ala375Pro
|
N
N
?
|
The alignment around the queried position:
ABCB11 186
I
W
F
D
-
-
C
N
V
G
E
N
T
R
F
S
D
D
N
K
I
N
D
I
A
D
Q
A
L
F
I
Q
M
T
T
I
C
G
F
L
G
F
F
R
-
W
K
L
L
V
I
I
S
V
S
P
L
I
G
I
G
A
T
I
L
S
262
ABCB1 159
E
W
-
-
V
H
D
G
E
N
T
R
S
K
I
E
V
-
K
L
T
L
V
I
L
I
V
L
V
235
ABCB1 800
D
P
K
T
A
T
T
R
A
A
Q
V
K
G
N
L
G
T
G
I
I
F
I
-
Q
L
T
L
L
878
ABCB2 332
E
T
E
F
F
Q
-
-
Q
N
Q
T
G
N
I
M
S
R
V
T
E
D
T
T
L
S
D
S
L
S
E
N
L
S
L
F
L
W
Y
L
V
R
G
L
C
L
L
G
M
L
W
G
S
-
V
S
L
T
M
V
T
L
T
L
P
L
L
F
L
L
P
K
K
G
K
W
408
ABCB3 237
D
L
G
F
F
Q
-
-
E
T
K
T
G
E
L
N
R
L
S
S
D
T
L
M
S
N
W
L
N
A
N
V
L
S
L
V
K
V
V
G
L
Y
G
F
L
S
I
S
-
P
R
L
L
L
S
L
L
H
M
P
F
T
I
A
A
E
K
V
Y
N
T
313
ABCB4 161
E
G
W
D
-
-
I
N
D
T
T
E
L
N
R
L
T
D
D
I
S
K
I
S
E
I
G
D
K
V
G
M
F
F
Q
A
V
A
F
F
A
G
F
I
V
G
F
I
R
G
-
W
K
L
L
V
I
M
A
I
P
I
L
G
L
S
A
A
V
W
A
K
I
237
ABCB4 799
D
M
S
W
F
D
H
K
N
S
T
A
L
S
T
R
L
A
T
D
A
A
Q
V
Q
G
A
T
G
T
R
L
A
L
I
A
Q
N
I
N
L
G
T
G
I
I
I
S
F
I
Y
G
-
W
Q
L
T
L
L
L
A
V
V
P
I
I
A
V
S
G
I
V
E
M
K
L
877
ABCB5 335
D
I
A
W
F
D
E
K
E
N
S
T
G
L
T
T
I
L
A
I
D
I
A
Q
I
Q
G
A
T
G
S
R
I
G
V
L
T
Q
N
T
N
M
G
L
S
V
I
I
S
F
I
Y
G
-
W
E
M
T
F
L
I
L
S
I
A
P
V
L
A
V
T
G
M
I
E
T
A
A
413
ABCB6 357
S
L
R
W
H
L
G
-
-
R
R
T
G
E
V
L
R
I
A
D
G
T
S
S
V
T
G
L
L
S
Y
L
V
F
N
V
I
P
T
L
A
D
I
I
I
G
I
I
Y
F
S
M
F
F
N
A
W
F
G
L
I
V
F
L
C
M
S
L
L
T
L
T
I
V
V
T
E
W
434
ABCB7 237
D
L
G
F
H
L
S
-
-
R
Q
T
G
A
L
S
K
A
I
D
R
G
T
R
G
I
S
F
V
L
S
A
L
V
F
N
L
L
P
I
M
F
E
V
M
L
V
S
G
V
L
Y
Y
K
C
G
A
Q
F
L
V
T
L
G
T
L
G
T
Y
T
A
F
T
V
A
V
T
R
W
314
ABCB8 239
D
I
T
F
F
D
-
-
A
N
K
T
G
Q
L
V
S
R
L
T
T
D
V
Q
E
F
K
S
S
F
K
L
V
I
S
Q
G
L
R
S
C
T
Q
V
A
G
C
L
V
S
L
S
M
L
S
-
T
R
L
T
L
L
L
M
V
A
T
P
A
L
M
G
V
G
T
L
M
G
S
G
315
ABCB9 273
E
T
S
F
F
D
-
-
E
N
R
T
G
D
L
I
S
R
L
T
S
D
T
T
M
V
S
D
L
V
S
Q
N
I
N
V
F
L
R
N
T
V
K
V
T
G
V
V
V
F
M
F
S
L
S
-
W
Q
L
S
L
V
T
F
M
G
F
P
I
I
M
M
V
S
N
I
Y
G
K
Y
349
ABCB10 259
E
V
A
F
F
D
-
-
K
T
R
T
G
E
L
I
N
R
L
S
S
D
T
A
L
L
G
R
S
V
T
E
N
L
S
D
G
L
R
A
G
A
Q
A
S
V
G
I
M
M
F
F
V
S
-
P
N
L
A
T
F
V
L
S
V
V
P
P
V
S
I
I
A
V
I
Y
G
R
Y
335
ABCB11 843
D
I
A
W
F
D
D
L
R
N
S
P
A
L
T
R
L
A
T
D
S
Q
V
G
A
A
G
Q
I
M
I
V
N
S
F
T
N
V
T
V
A
M
I
I
A
F
S
F
S
-
W
K
L
L
V
I
L
C
F
F
P
F
L
A
L
S
G
A
T
Q
T
R
M
921