Mutations at homologous positions to ABCB11 p.Arg470
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.Arg470Gln
p.Arg470*
p.Arg1128His
p.Arg1128Cys
|
D
D
?
-
-
?
D
D
?
D
D
?
|
ABCB1 |
p.Arg1085Cys
|
D
D
?
|
ABCB4 |
p.Arg444Glu
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
ABCB11 |
p.Gln466Lys
p.Tyr472*
p.Tyr472Cys
p.Asp1131Val
|
D
D
?
-
-
?
D
D
?
D
D
?
|
ABCB1 |
p.Val437Ile
p.Val437Ala
p.Gln438Ile
p.Leu439Cys
p.Leu443Cys
p.Leu443Val
p.Leu443*
p.Leu443Ala
p.Leu443Arg
p.Leu443Ser
p.Leu443Phe
p.Tyr444Arg
p.Tyr444*
p.Tyr444Phe
p.Tyr444Glu
p.Tyr444Leu
p.Tyr444Ala
p.Gln1081Leu
p.Phe1086Cys
p.Phe1086Ala
p.Phe1086Asp
p.Phe1086Arg
p.Phe1086Trp
p.Phe1086Leu
p.Phe1086Tyr
p.Phe1086*
p.Tyr1087Cys
p.Tyr1087Ala
p.Tyr1087Leu
p.Tyr1087Phe
p.Tyr1087Asp
p.Tyr1087Pro
p.Tyr1087Arg
p.Asp1088Cys
p.Asp1088Asn
|
N
N
?
N
D
?
D
D
?
D
D
?
N
D
?
N
N
?
-
-
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
-
-
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
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
?
D
D
?
D
D
?
|
ABCB2 |
p.Ala608Ser
p.Ala609Gly
|
N
N
?
N
N
?
|
ABCB4 |
p.Val1079Cys
p.Leu1082Gln
p.Leu1082Cys
|
N
D
?
D
D
?
N
D
?
|
ABCB7 |
p.Glu523Gln
|
N
N
?
|
The alignment around the queried position:
743ABCB11 431
S
P
E
V
K
I
L
N
L
N
M
I
K
P
G
E
M
T
A
L
V
P
S
G
G
S
A
L
L
I
Q
F
D
P
C
E
G
M
V
T
-
-
-
-
-
-
-
G
H
D
I
S
L
I
Q
L
R
D
Q
-
I
V
E
502
ABCB1 403
R
K
E
V
K
L
K
G
L
N
L
K
Q
S
G
Q
T
V
A
L
V
T
T
M
Q
R
D
P
T
V
-
-
-
-
-
-
-
V
D
I
R
T
I
N
V
R
L
E
I
G
-
V
V
474
ABCB1 1046
T
R
P
D
L
Q
G
L
S
L
E
V
K
Q
L
A
L
V
V
V
L
L
E
P
L
A
K
V
-
-
-
-
-
-
-
L
L
D
E
I
K
R
L
N
V
R
A
H
L
G
-
I
V
S
1117
ABCB2 574
N
R
P
D
V
L
V
L
Q
G
L
T
F
T
L
R
P
G
E
V
T
A
L
V
G
P
N
G
S
G
K
S
T
V
L
L
Q
N
L
Y
Q
P
T
G
G
Q
L
L
-
-
-
-
-
-
-
L
D
G
K
P
L
Q
Y
E
H
R
Y
L
H
R
Q
V
A
-
A
V
645
ABCB3 479
N
R
P
D
R
P
V
L
K
G
L
T
F
T
L
R
P
G
E
V
T
A
L
V
G
P
N
G
S
G
S
T
V
A
A
L
L
Q
N
L
Y
Q
P
T
G
G
Q
V
L
-
-
-
-
-
-
-
L
D
E
K
P
I
S
Q
Y
E
H
Y
L
H
S
Q
V
V
-
S
V
G
550
ABCB4 405
S
R
A
N
V
K
I
L
K
G
L
N
L
K
V
Q
S
G
Q
A
L
V
G
S
C
G
S
T
T
V
Q
L
I
Q
L
Y
D
P
D
G
T
I
N
-
-
-
-
-
-
-
I
D
G
Q
I
R
N
F
N
V
N
L
R
E
I
I
G
-
V
S
476
ABCB4 1045
T
A
N
V
P
V
L
Q
G
L
S
L
E
V
K
K
G
Q
T
L
A
L
G
S
G
G
S
T
V
Q
L
E
R
F
Y
D
P
L
A
G
T
V
F
V
D
F
G
F
Q
L
L
D
G
Q
E
A
K
K
L
N
V
Q
W
L
R
A
L
G
-
I
V
S
1123
ABCB5 581
C
R
P
V
F
I
L
R
G
L
S
L
S
I
E
R
G
K
T
V
A
F
V
G
S
S
G
C
G
K
S
T
S
V
Q
L
L
Q
R
L
Y
D
P
V
Q
G
Q
V
-
-
-
-
-
-
-
L
F
D
G
V
D
A
K
E
L
N
V
Q
W
L
R
S
Q
I
A
-
I
V
P
652
ABCB6 601
D
G
R
E
-
-
T
L
Q
D
V
S
F
T
V
M
P
G
Q
T
L
A
L
V
G
P
S
G
A
S
T
I
L
R
L
L
F
R
F
Y
D
I
S
S
G
C
I
R
-
-
-
-
-
-
-
I
D
G
Q
D
I
S
Q
V
T
Q
A
S
L
R
S
H
I
G
-
V
V
P
670
ABCB7 483
E
G
Q
K
-
-
V
L
S
G
I
S
F
E
V
P
A
G
K
K
V
A
I
V
G
G
S
G
S
G
K
S
T
I
V
R
L
L
F
R
F
Y
P
Q
K
G
S
I
Y
-
-
-
-
-
-
-
L
A
G
Q
N
I
Q
D
V
S
L
E
S
L
R
R
A
V
G
-
V
V
P
552
ABCB8 483
C
R
P
G
F
E
V
L
K
D
F
T
L
T
L
P
P
G
K
I
V
A
L
V
G
Q
S
G
G
G
K
T
T
V
A
S
L
L
E
R
F
Y
D
P
T
A
G
V
V
M
-
-
-
-
-
-
-
L
D
G
R
D
L
R
T
L
D
P
S
W
L
R
G
Q
V
V
G
F
I
S
555
ABCB9 515
T
R
P
H
T
Q
V
L
Q
N
V
S
F
S
L
S
P
G
K
V
T
A
L
V
G
P
S
G
S
G
S
S
C
V
N
I
L
E
N
F
Y
P
L
E
G
G
R
V
L
-
-
-
-
-
-
-
L
D
G
K
P
I
S
A
Y
D
H
K
Y
L
H
R
V
I
S
-
L
V
S
586
ABCB10 503
A
R
P
E
V
P
I
F
Q
D
F
S
L
S
I
P
S
G
S
V
T
A
L
V
G
P
S
G
S
G
K
S
T
V
L
S
L
L
L
R
L
Y
D
P
A
S
G
T
I
S
-
-
-
-
-
-
-
L
D
G
H
D
I
R
Q
L
N
P
V
W
L
R
S
K
I
G
-
T
V
S
574
ABCB11 1089
S
P
D
S
Q
V
L
N
G
L
S
V
S
I
S
P
G
Q
T
L
F
G
S
C
G
K
T
S
I
Q
L
L
E
F
Y
P
D
Q
G
K
V
-
-
-
-
-
-
-
M
I
D
G
H
D
K
N
V
Q
F
L
N
I
G
-
I
V
S
1160