Mutations at homologous positions to ABCB11 p.Gly374
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.Gly374Ser
p.Gly1032Arg
|
D
D
?
D
D
?
|
ABCB1 |
p.Gly346Cys
p.Gly989Cys
|
D
D
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
ABCB11 |
p.Thr1029Lys
|
D
N
?
|
ABCB1 |
p.Gly341Val
p.Gly341Cys
p.Gly341Ala
p.Ala342Cys
p.Phe343Cys
p.Phe343Arg
p.Phe343Tyr
p.Phe343Met
p.Phe343Ala
p.Ser344Cys
p.Ser344Ala
p.Val345Cys
p.Gln347Cys
p.Gln347Ala
p.Ala348Cys
p.Ser349Cys
p.Ser349Ala
p.Pro350Cys
p.Pro350Ser
p.Ser351Asn
p.Ser351Ala
p.Ser351Cys
p.Gly984Cys
p.Ala985Cys
p.Ala985Thr
p.Met986Ala
p.Met986Val
p.Met986Cys
p.Met986Arg
p.Ala987Cys
p.Val988Ala
p.Val988Cys
p.Gln990Ala
p.Gln990Cys
p.Val991Ala
p.Val991Cys
p.Ser992Asn
p.Ser992Cys
p.Ser992Ala
p.Ser993Cys
p.Ser993Ala
p.Ser993Arg
p.Phe994Cys
|
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
N
N
?
N
D
?
D
D
?
N
N
?
D
N
?
D
D
?
D
D
?
D
D
?
N
D
?
D
N
?
N
N
?
D
D
?
N
D
?
N
N
?
N
N
?
N
N
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
N
N
?
N
N
?
D
N
?
D
D
?
D
N
?
D
D
?
D
N
?
D
D
?
D
D
?
|
ABCB2 |
p.Val518Ile
p.Val518Leu
|
N
N
?
N
N
?
|
ABCB4 |
p.Ser346Ile
p.Pro352Leu
p.Gly983Ser
|
D
D
?
D
D
?
N
D
?
|
ABCB5 |
p.Lys521Leu
|
N
D
?
|
The alignment around the queried position:
ABCB11 335
L
A
A
F
Y
G
S
T
L
V
L
D
E
G
E
T
P
G
T
L
V
Q
I
F
L
S
V
I
V
G
A
L
N
L
N
A
S
P
C
L
E
F
A
T
G
A
T
S
I
F
E
T
I
D
R
K
P
I
I
D
C
M
S
E
D
Y
K
D
414
ABCB1 308
A
S
A
L
Y
G
L
V
S
-
Y
I
G
V
I
E
F
A
N
A
R
A
Y
E
I
F
K
I
N
K
S
I
D
S
Y
S
S
G
H
K
P
D
386
ABCB1 951
R
F
G
A
Y
L
V
A
H
-
K
L
M
S
F
E
D
V
V
A
D
Y
K
A
K
I
S
A
H
I
I
M
I
I
K
P
L
I
D
S
Y
S
T
E
G
L
M
N
1029
ABCB2 481
L
L
K
V
G
I
L
Y
I
G
G
Q
L
V
T
S
-
G
A
V
S
S
G
N
L
V
T
F
V
L
Y
Q
M
Q
F
T
Q
A
E
V
L
L
S
I
Y
P
R
V
Q
K
A
V
G
S
S
E
K
I
F
E
Y
L
D
R
T
P
R
C
P
P
S
G
-
-
L
L
T
P
L
557
ABCB3 386
G
V
Q
M
L
M
L
S
G
L
Q
Q
M
Q
D
-
G
E
L
T
Q
G
S
L
S
F
M
I
Y
Q
E
S
V
G
S
Y
V
Q
T
L
V
Y
I
Y
G
D
M
L
S
N
V
G
A
A
E
K
V
F
S
Y
M
D
R
Q
P
N
L
P
S
P
G
-
-
T
L
A
P
T
462
ABCB4 310
A
S
Y
A
L
A
F
W
Y
T
L
V
I
S
-
K
E
T
I
G
N
A
M
T
V
F
F
S
I
L
I
G
A
F
V
G
Q
A
A
C
I
D
A
A
N
A
R
G
A
Y
V
F
D
I
I
D
N
N
P
K
I
D
S
F
S
E
R
G
H
K
P
D
388
ABCB4 950
F
S
Y
C
F
F
G
A
Y
L
I
V
N
-
G
H
M
R
F
R
D
V
I
V
F
A
I
V
F
A
V
A
L
G
H
A
S
S
F
A
P
D
Y
A
K
A
K
L
S
A
A
H
L
F
M
L
F
E
R
Q
P
L
I
D
S
Y
S
E
E
L
K
P
D
1028
ABCB5 486
F
A
Y
A
A
G
F
R
F
G
A
Y
L
I
Q
A
-
G
R
M
T
P
E
G
M
F
I
V
F
T
A
I
A
Y
G
A
A
I
G
E
T
L
V
L
A
P
E
Y
S
K
A
K
S
G
A
A
H
L
F
A
L
L
E
K
K
P
N
I
D
S
R
S
Q
E
G
K
P
D
564
ABCB6 507
L
G
L
L
A
G
S
L
L
C
A
Y
F
V
T
E
-
Q
K
L
Q
V
G
D
Y
V
L
F
G
T
Y
I
I
Q
L
Y
M
P
L
N
W
F
G
T
Y
Y
R
M
I
T
N
F
I
D
M
E
N
M
F
D
L
L
K
E
E
T
E
V
K
D
L
P
A
G
P
L
R
F
585
ABCB7 387
V
G
L
T
A
I
M
V
L
A
S
Q
G
V
A
-
G
T
L
T
V
G
D
L
M
V
N
G
L
L
F
Q
L
S
L
P
L
N
F
L
G
T
V
Y
R
T
R
Q
A
L
I
D
M
N
T
L
F
T
L
L
K
V
D
T
Q
I
K
D
K
V
M
A
S
P
L
Q
I
465
ABCB8 388
C
M
V
L
G
T
L
F
I
G
G
S
L
V
A
G
-
Q
Q
L
T
G
G
D
L
M
S
F
L
V
A
S
Q
T
V
Q
R
S
M
A
N
L
S
V
L
F
G
Q
V
V
R
G
L
S
A
G
A
R
V
F
E
Y
M
A
L
N
P
C
I
P
L
S
G
G
C
C
V
P
K
E
466
ABCB9 422
V
V
Q
V
S
I
L
Y
Y
G
G
H
L
V
I
S
-
G
Q
M
T
S
G
N
L
I
A
F
I
I
Y
E
F
V
L
G
D
C
M
E
S
V
G
S
V
Y
S
G
L
M
Q
G
V
G
A
A
E
K
V
F
E
F
I
D
R
Q
P
T
M
V
H
D
G
-
-
S
L
A
P
D
498
ABCB10 408
L
I
V
L
S
V
L
Y
K
G
G
L
L
M
G
S
-
A
H
M
T
V
G
E
L
S
S
F
L
M
Y
A
F
W
V
G
I
S
I
G
G
L
S
S
F
Y
S
E
L
M
K
G
L
G
A
G
G
R
L
W
E
L
L
E
R
E
P
K
L
P
F
N
E
G
V
I
L
N
E
K
486
ABCB11 994
I
A
N
S
A
S
Y
R
Y
Y
I
S
-
E
G
L
H
F
S
Y
V
F
R
V
I
S
A
V
V
L
S
A
A
L
R
A
F
S
Y
T
P
S
A
K
K
I
S
A
A
F
F
Q
L
D
P
P
I
S
V
Y
N
T
A
G
E
K
W
D
1072