Mutations at homologous positions to ABCB5 p.Glu347
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 |
||
|---|---|---|
| ABCB5 |
p.Glu347Arg
|
D
D
?
|
| ABCB1 |
p.Gly812Val
|
D
D
?
|
| ABCB11 |
p.Gly855Arg
|
D
D
?
|
| ABCB4 |
p.Gly811Arg
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCB1 |
p.Asp164Ala
p.Asp164Cys
p.Asp164Gln
p.Val168Ile
p.Leu171Pro
p.Asn809Gln
p.Thr811Ala
p.Leu814Ala
|
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCB11 |
p.Ser194Pro
p.Leu198Pro
p.Thr859Arg
|
N
N
?
D
D
?
D
D
?
|
| ABCB3 |
p.Ser251Pro
p.Ser251Cys
p.Ser251Ala
|
D
D
?
D
D
?
D
D
?
|
| ABCB4 |
p.Thr175Ala
p.Thr175Val
|
D
D
D
D
D
D
|
The alignment around the queried position:
ABCB5 311
-
-
-
F
Y
G
R
A
G
E
I
L
T
M
R
L
R
H
L
A
F
K
A
M
L
Y
Q
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
387
ABCB1 135
-
-
-
F
R
Q
H
K
I
R
K
Q
F
F
H
I
M
R
E
W
-
-
V
H
D
G
E
N
T
R
S
K
I
E
V
209
ABCB1 776
-
-
-
L
T
K
L
R
M
V
R
S
M
R
Q
D
P
K
T
A
T
T
R
A
A
Q
V
K
G
N
L
G
T
G
I
I
F
I
852
ABCB2 308
-
-
-
I
Y
N
N
T
M
G
H
H
S
H
L
Q
G
E
V
F
G
A
V
L
R
Q
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
382
ABCB3 213
-
-
-
F
T
Y
T
M
S
R
I
N
L
R
I
R
E
Q
L
F
S
S
L
L
R
Q
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
287
ABCB4 137
-
-
-
F
T
L
A
A
G
I
R
K
I
Q
K
F
F
H
A
I
L
Q
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
211
ABCB4 775
-
-
-
F
G
K
A
G
E
I
L
T
R
R
L
S
M
A
F
K
A
M
L
R
Q
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
851
ABCB6 330
R
T
F
L
W
I
R
V
Q
Q
F
T
S
R
R
V
E
L
L
I
F
S
H
L
H
E
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
407
ABCB7 210
R
N
A
V
F
G
K
V
A
Q
N
S
I
R
R
I
A
K
N
V
F
L
H
L
H
N
L
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
287
ABCB8 212
Y
L
V
L
L
S
H
V
G
E
R
M
A
V
D
M
R
R
A
L
F
S
S
L
L
R
Q
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
289
ABCB9 249
-
-
-
I
F
T
L
I
F
A
R
L
N
I
R
L
R
N
C
L
F
R
S
L
V
S
Q
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
323
ABCB10 235
-
-
-
L
M
Q
T
S
G
Q
R
I
V
N
R
L
R
T
S
L
F
S
S
I
L
R
Q
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
309
ABCB11 162
-
-
-
F
W
V
I
A
A
R
Q
I
Q
K
M
R
K
F
Y
F
R
R
M
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
236
ABCB11 819
-
-
-
A
F
A
K
S
G
E
L
T
K
R
L
K
F
G
F
R
A
M
L
G
Q
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
895