Mutations at homologous positions to ABCB5 p.Lys521
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.Lys521Leu
|
N
D
?
|
| ABCB1 |
p.Phe343Cys
p.Phe343Arg
p.Phe343Tyr
p.Phe343Met
p.Phe343Ala
p.Met986Ala
p.Met986Val
p.Met986Cys
p.Met986Arg
|
D
D
?
D
D
?
N
N
?
N
D
?
D
D
?
D
D
?
N
N
?
D
D
?
D
D
?
|
| ABCB11 |
p.Thr1029Lys
|
D
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCB1 |
p.Val338Ala
p.Leu339Cys
p.Leu339Val
p.Ile340Cys
p.Ile340Ala
p.Gly341Val
p.Gly341Cys
p.Gly341Ala
p.Ala342Cys
p.Ser344Cys
p.Ser344Ala
p.Val345Cys
p.Gly346Cys
p.Gln347Cys
p.Gln347Ala
p.Ala348Cys
p.Val981Ala
p.Val981Cys
p.Val982Cys
p.Val982Arg
p.Val982Ala
p.Phe983Ala
p.Phe983Cys
p.Gly984Cys
p.Ala985Cys
p.Ala985Thr
p.Ala987Cys
p.Val988Ala
p.Val988Cys
p.Gly989Cys
p.Gln990Ala
p.Gln990Cys
p.Val991Ala
p.Val991Cys
|
D
D
?
N
D
?
N
N
?
N
D
?
D
D
?
D
D
?
D
D
?
N
D
?
D
D
?
N
N
?
D
N
?
D
D
?
D
D
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
N
N
?
|
| ABCB11 |
p.Gly374Ser
p.Gly1032Arg
|
D
D
?
D
D
?
|
| ABCB2 |
p.Val518Ile
p.Val518Leu
|
N
N
?
N
N
?
|
| ABCB4 |
p.Ser346Ile
p.Gly983Ser
|
D
D
?
N
D
?
|
The alignment around the queried position:
643ABCB5 483
F
I
Y
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
561
ABCB1 305
L
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
383
ABCB1 948
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
1026
ABCB2 478
S
G
M
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
554
ABCB3 383
L
H
L
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
459
ABCB4 307
L
I
Y
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
385
ABCB4 947
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
1025
ABCB6 504
V
I
G
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
582
ABCB7 384
I
F
S
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
462
ABCB8 385
A
F
N
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
463
ABCB9 419
T
L
L
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
495
ABCB10 405
S
G
N
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
483
ABCB11 332
L
I
F
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
411
ABCB11 991
I
M
F
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
1069