Mutations at homologous positions to ABCB6 p.Arg276
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 |
||
|---|---|---|
| ABCB6 |
p.Arg276Trp
|
D
D
?
|
| ABCB1 |
p.Gly722Cys
p.Gly722Ala
|
D
D
?
D
D
?
|
| ABCB11 |
p.Gly766Arg
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCB1 |
p.Ala80Glu
p.Ala80Gly
p.Ala80Pro
p.Ala80Cys
p.Ala80Arg
p.Cys717Ser
p.Ala718Cys
p.Ala718Leu
p.Ile719Cys
p.Ile719Ala
p.Ile720Cys
p.Asn721Cys
p.Gly723Cys
p.Gly723Glu
p.Gly723Ala
p.Leu724Cys
p.Gln725Cys
p.Pro726Cys
p.Pro726Thr
p.Ala727Cys
|
D
N
?
N
N
?
D
N
?
N
N
?
N
N
?
N
D
?
N
D
?
D
D
?
N
D
?
N
N
?
N
D
?
N
D
?
N
D
?
D
D
?
N
N
?
N
D
?
N
D
?
N
D
?
D
D
?
N
N
?
|
| ABCB11 |
p.Cys107Arg
p.Ile112Thr
p.Ile112Val
|
D
D
?
N
N
?
N
N
?
|
| ABCB3 |
p.Glu166Ala
|
D
D
?
|
| ABCB4 |
p.Asp87Glu
p.Gly723Glu
p.Gln725Arg
p.Pro726Thr
|
N
N
?
D
D
?
D
N
?
N
D
?
|
| ABCB7 |
p.Gly149Ala
|
N
D
?
|
The alignment around the queried position:
ABCB6 237
S
T
W
R
D
F
G
R
K
L
R
L
L
S
G
Y
L
W
P
R
G
S
P
A
L
Q
L
V
V
L
I
C
L
G
L
M
G
L
E
A
L
N
V
L
V
P
I
F
Y
R
N
I
V
N
L
L
T
E
K
A
P
-
-
-
-
W
N
S
L
A
W
T
V
T
S
Y
V
F
L
312
ABCB1 75
M
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
D
I
F
N
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
G
N
L
E
D
L
S
I
T
R
S
D
I
D
T
-
-
-
-
-
-
-
M
N
L
D
M
T
A
Y
116
ABCB1 700
I
M
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
K
L
N
L
T
I
F
S
K
I
G
V
F
T
I
P
-
-
-
-
-
E
T
K
R
Q
N
S
N
L
F
S
L
757
ABCB2 236
L
L
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
G
C
L
G
S
E
T
R
R
S
L
F
L
V
L
V
V
L
S
S
L
G
E
M
A
I
P
F
F
T
G
R
L
T
D
W
I
L
-
-
-
-
-
-
-
-
-
D
G
S
A
D
T
F
T
R
N
L
T
289
ABCB3 141
L
L
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
K
L
R
P
D
L
P
L
L
V
A
A
F
F
F
L
V
L
A
V
L
G
T
L
I
P
H
Y
S
G
V
I
I
G
-
-
-
-
-
-
-
-
-
D
F
D
P
H
A
F
A
S
I
F
194
ABCB4 81
M
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
D
K
F
V
-
-
-
-
-
-
-
-
-
-
-
-
-
-
T
A
G
N
F
S
F
V
N
F
S
-
L
S
L
L
N
P
G
-
-
-
-
-
-
-
-
-
-
K
I
L
E
E
E
T
R
Y
A
118
ABCB4 700
V
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
K
L
N
K
T
E
W
P
Y
V
V
G
V
C
A
I
A
N
G
L
A
S
V
I
S
E
I
I
F
G
D
D
-
-
-
-
-
-
A
V
K
Q
Q
K
C
N
I
F
S
L
756
ABCB5 236
I
L
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
K
L
N
K
P
E
W
P
F
V
V
L
G
T
L
A
S
V
L
N
G
T
V
H
P
V
F
S
I
I
F
A
K
I
I
T
M
F
G
N
N
D
K
-
-
-
-
-
-
T
T
L
K
H
D
A
E
I
Y
S
M
292
ABCB7 127
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Y
V
W
P
K
D
R
P
D
L
R
A
R
V
A
I
S
G
F
L
G
A
K
A
M
N
I
V
V
P
F
M
F
K
Y
A
V
D
S
L
N
Q
M
S
G
N
M
L
N
L
S
D
A
P
N
T
V
A
T
M
A
T
A
191
ABCB8 137
F
W
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Q
F
L
H
P
H
L
L
V
L
G
V
A
V
V
L
A
L
G
A
A
L
V
N
V
Q
I
P
L
L
L
G
Q
L
V
E
V
V
A
K
Y
T
R
-
-
-
-
-
-
D
H
V
G
S
F
M
T
E
S
Q
N
193
ABCB9 177
L
L
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
S
Y
T
K
P
D
V
A
F
L
V
A
A
S
F
F
L
I
V
A
A
L
G
E
T
F
L
P
Y
Y
T
G
R
A
I
D
G
I
V
I
-
-
-
-
-
-
-
-
-
Q
K
S
M
D
Q
F
S
T
A
V
V
230
ABCB10 160
L
L
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
G
L
A
Y
P
E
R
R
R
L
A
A
A
V
G
F
L
T
M
S
S
V
I
S
M
S
A
P
F
F
L
G
K
I
I
D
V
I
Y
T
N
P
T
-
-
-
-
-
-
V
D
Y
S
D
N
L
T
R
L
C
L
216
ABCB11 86
M
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
D
V
F
I
D
Y
D
V
L
Q
E
L
Q
I
P
G
K
A
V
N
N
T
V
T
N
S
S
L
N
N
T
N
G
T
C
G
L
-
-
-
-
-
L
N
I
S
M
I
K
F
A
S
143
ABCB11 744
I
L
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
K
F
S
A
P
E
W
P
Y
M
L
V
S
V
G
A
A
V
N
T
V
T
P
L
A
F
L
F
S
Q
I
L
G
T
F
S
I
P
D
K
-
-
-
-
-
-
E
E
R
S
Q
I
N
G
V
C
L
800