Mutations at homologous positions to ABCB1 p.Gln347
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 |
||
|---|---|---|
| ABCB1 |
p.Gln347Cys
p.Gln347Ala
p.Gln990Ala
p.Gln990Cys
|
D
D
?
D
D
?
D
D
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCB1 |
p.Ala342Cys
p.Phe343Cys
p.Phe343Arg
p.Phe343Tyr
p.Phe343Met
p.Phe343Ala
p.Ser344Cys
p.Ser344Ala
p.Val345Cys
p.Gly346Cys
p.Ala348Cys
p.Ser349Cys
p.Ser349Ala
p.Pro350Cys
p.Pro350Ser
p.Ser351Asn
p.Ser351Ala
p.Ser351Cys
p.Ala985Cys
p.Ala985Thr
p.Met986Ala
p.Met986Val
p.Met986Cys
p.Met986Arg
p.Ala987Cys
p.Val988Ala
p.Val988Cys
p.Gly989Cys
p.Val991Ala
p.Val991Cys
p.Ser992Asn
p.Ser992Cys
p.Ser992Ala
p.Ser993Cys
p.Ser993Ala
p.Ser993Arg
p.Phe994Cys
|
D
D
?
D
D
?
D
D
?
N
N
?
N
D
?
D
D
?
N
N
?
D
N
?
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
?
N
N
?
D
D
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
N
N
?
N
N
?
D
N
?
D
D
?
D
N
?
D
D
?
D
N
?
D
D
?
D
D
?
|
| ABCB11 |
p.Gly374Ser
p.Thr1029Lys
p.Gly1032Arg
|
D
D
?
D
N
?
D
D
?
|
| ABCB2 |
p.Val518Ile
p.Val518Leu
|
N
N
?
N
N
?
|
| ABCB4 |
p.Ser346Ile
p.Pro352Leu
|
D
D
?
D
D
?
|
| ABCB5 |
p.Lys521Leu
|
N
D
?
|
The alignment around the queried position:
ABCB1 309
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
N
387
ABCB1 952
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
T
1030
ABCB2 482
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
H
558
ABCB3 387
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
T
463
ABCB4 311
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
S
389
ABCB4 951
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
K
1029
ABCB5 487
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
T
565
ABCB6 508
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
Q
586
ABCB7 388
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
T
466
ABCB8 389
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
Q
467
ABCB9 423
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
H
499
ABCB10 409
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
S
487
ABCB11 336
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
415
ABCB11 995
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
N
1073